Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127922033_127922034insAGG , CM000666.2:g.127922033_127922034insAGG	GRCh38
NC_000004.11:g.128843188_128843189insAGG , CM000666.1:g.128843188_128843189insAGG	GRCh37
NC_000004.10:g.129062638_129062639insAGG	NCBI36
NG_008657.1:g.48951_48952insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.999-71_999-70insCCT	ENSP00000296468.3:n.999-71_999-70insCCT
ENST00000509826.2:c.232-71_232-70insCCT	ENSP00000421176.2:n.232-71_232-70insCCT
ENST00000513559.6:c.717-71_717-70insCCT	ENSP00000425000.2:n.717-71_717-70insCCT
ENST00000515130.6:c.864-263_864-262insCCT	ENSP00000493056.1:n.864-263_864-262insCCT
ENST00000641025.1:c.999-263_999-262insCCT	ENSP00000493346.1:n.999-263_999-262insCCT
ENST00000641092.1:c.798-263_798-262insCCT	ENSP00000493392.1:n.798-263_798-262insCCT
ENST00000641133.1:c.313-71_313-70insCCT	ENSP00000493192.1:n.313-71_313-70insCCT
ENST00000641146.1:n.865-71_865-70insCCT
ENST00000641147.1:c.549-71_549-70insCCT	ENSP00000493133.1:n.549-71_549-70insCCT
ENST00000641178.1:c.864-71_864-70insCCT	ENSP00000492989.1:n.864-71_864-70insCCT
ENST00000641186.1:c.885-71_885-70insCCT	ENSP00000493347.1:n.885-71_885-70insCCT
ENST00000641228.1:c.798-263_798-262insCCT	ENSP00000493194.1:n.798-263_798-262insCCT
ENST00000641332.1:c.164-263_164-262insCCT	ENSP00000493397.1:n.164-263_164-262insCCT
ENST00000641340.1:c.232-263_232-262insCCT	ENSP00000493191.1:n.232-263_232-262insCCT
ENST00000641388.1:n.350-263_350-262insCCT
ENST00000641393.1:c.549-71_549-70insCCT	ENSP00000493197.1:n.549-71_549-70insCCT
ENST00000641397.1:c.684-263_684-262insCCT	ENSP00000493406.1:n.684-263_684-262insCCT
ENST00000641413.1:c.28-263_28-262insCCT
ENST00000641434.1:c.999-71_999-70insCCT	ENSP00000493279.1:n.999-71_999-70insCCT
ENST00000641464.1:c.232-71_232-70insCCT	ENSP00000493438.1:n.232-71_232-70insCCT
ENST00000641482.1:c.999-263_999-262insCCT	ENSP00000493277.1:n.999-263_999-262insCCT
ENST00000641508.1:c.232-71_232-70insCCT	ENSP00000493209.1:n.232-71_232-70insCCT
ENST00000641509.1:c.684-71_684-70insCCT	ENSP00000493459.1:n.684-71_684-70insCCT
ENST00000641538.1:c.710-71_710-70insCCT
ENST00000641590.1:c.885-263_885-262insCCT	ENSP00000493132.1:n.885-263_885-262insCCT
ENST00000641658.1:c.164-71_164-70insCCT	ENSP00000492987.1:n.164-71_164-70insCCT
ENST00000641686.2:c.999-71_999-70insCCT MANE Select	ENSP00000493218.2:n.999-71_999-70insCCT
ENST00000641690.1:c.798-71_798-70insCCT	ENSP00000492966.1:n.798-71_798-70insCCT
ENST00000641742.1:c.164-71_164-70insCCT	ENSP00000493315.1:n.164-71_164-70insCCT
ENST00000641748.1:c.999-71_999-70insCCT	ENSP00000493330.1:n.999-71_999-70insCCT
ENST00000641753.1:c.826-71_826-70insCCT
ENST00000641774.1:c.232-52_232-51insCCT	ENSP00000492960.1:n.232-52_232-51insCCT
ENST00000641830.1:c.335-263_335-262insCCT
ENST00000641843.1:c.164-263_164-262insCCT	ENSP00000493174.1:n.164-263_164-262insCCT
ENST00000641869.1:c.304-263_304-262insCCT
ENST00000641870.1:c.164-263_164-262insCCT	ENSP00000493044.1:n.164-263_164-262insCCT
ENST00000641882.1:c.164-71_164-70insCCT	ENSP00000493301.1:n.164-71_164-70insCCT
ENST00000641928.1:c.232-263_232-262insCCT	ENSP00000493418.1:n.232-263_232-262insCCT
ENST00000641949.1:c.554-1198_554-1197insCCT	ENSP00000492891.1:n.554-1198_554-1197insCCT
ENST00000642012.1:n.863-71_863-70insCCT
ENST00000642034.1:c.885-263_885-262insCCT	ENSP00000493285.1:n.885-263_885-262insCCT
ENST00000642042.1:c.999-71_999-70insCCT	ENSP00000493260.1:n.999-71_999-70insCCT
ENST00000642078.1:c.164-263_164-262insCCT	ENSP00000492885.1:n.164-263_164-262insCCT
ENST00000296468.7:c.999-71_999-70insCCT	ENSP00000296468.3:n.999-71_999-70insCCT
ENST00000505284.5:n.894-263_894-262insCCT
ENST00000509826.1:c.232-71_232-70insCCT	ENSP00000421176.1:n.232-71_232-70insCCT
ENST00000513559.5:c.864-71_864-70insCCT	ENSP00000425000.1:n.864-71_864-70insCCT
ENST00000515130.5:n.1445-263_1445-262insCCT
NM_152778.2:c.999-71_999-70insCCT	NP_689991.1:n.999-71_999-70insCCT
XM_005262893.1:c.999-71_999-70insCCT	XP_005262950.1:n.999-71_999-70insCCT
XM_005262896.1:c.852-71_852-70insCCT	XP_005262953.1:n.852-71_852-70insCCT
XM_005262897.1:c.798-71_798-70insCCT	XP_005262954.1:n.798-71_798-70insCCT
XM_005262898.2:c.999-263_999-262insCCT	XP_005262955.1:n.999-263_999-262insCCT
XM_011531830.1:c.885-71_885-70insCCT	XP_011530132.1:n.885-71_885-70insCCT
XM_011531831.1:c.684-71_684-70insCCT	XP_011530133.1:n.684-71_684-70insCCT
XM_011531832.1:c.885-263_885-262insCCT	XP_011530134.1:n.885-263_885-262insCCT
XR_938717.1:n.1076-71_1076-70insCCT
NM_001363520.1:c.798-71_798-70insCCT	NP_001350449.1:n.798-71_798-70insCCT
NM_001363521.1:c.684-71_684-70insCCT	NP_001350450.1:n.684-71_684-70insCCT
XM_005262898.3:c.999-263_999-262insCCT	XP_005262955.1:n.999-263_999-262insCCT
XM_017007989.1:c.798-263_798-262insCCT	XP_016863478.1:n.798-263_798-262insCCT
XM_024453981.1:c.864-71_864-70insCCT	XP_024309749.1:n.864-71_864-70insCCT
XM_024453982.1:c.750-71_750-70insCCT	XP_024309750.1:n.750-71_750-70insCCT
XM_024453983.1:c.549-71_549-70insCCT	XP_024309751.1:n.549-71_549-70insCCT
XR_001741194.1:n.1076-263_1076-262insCCT
XR_001741195.1:n.962-263_962-262insCCT
XR_001741196.1:n.875-263_875-262insCCT
XR_001741197.1:n.931-71_931-70insCCT
XR_001741198.2:n.931-263_931-262insCCT
XR_001741199.1:n.931-263_931-262insCCT
XR_938717.2:n.1076-71_1076-70insCCT
NM_001363520.2:c.798-71_798-70insCCT	NP_001350449.1:n.798-71_798-70insCCT
NM_001363521.2:c.684-71_684-70insCCT	NP_001350450.1:n.684-71_684-70insCCT
NM_001371590.1:c.864-71_864-70insCCT	NP_001358519.1:n.864-71_864-70insCCT
NM_001371591.1:c.999-71_999-70insCCT	NP_001358520.1:n.999-71_999-70insCCT
NM_001371592.1:c.1005-71_1005-70insCCT	NP_001358521.1:n.1005-71_1005-70insCCT
NM_001371593.1:c.885-71_885-70insCCT	NP_001358522.1:n.885-71_885-70insCCT
NM_001371594.1:c.852-71_852-70insCCT	NP_001358523.1:n.852-71_852-70insCCT
NM_001371595.1:c.717-71_717-70insCCT	NP_001358524.1:n.717-71_717-70insCCT
NM_001371596.2:c.999-71_999-70insCCT MANE Select	NP_001358525.1:n.999-71_999-70insCCT
NM_152778.3:c.999-71_999-70insCCT	NP_689991.1:n.999-71_999-70insCCT
NM_152778.4:c.999-71_999-70insCCT	NP_689991.1:n.999-71_999-70insCCT