Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150560409_150560410insCCCGTCTGGGAATG , CM000663.2:g.150560409_150560410insCCCGTCTGGGAATG	GRCh38
NC_000001.10:g.150532885_150532886insCCCGTCTGGGAATG , CM000663.1:g.150532885_150532886insCCCGTCTGGGAATG	GRCh37
NC_000001.9:g.148799509_148799510insCCCGTCTGGGAATG	NCBI36
NG_012172.1:g.15988_15989insCCCGTCTGGGAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.213_214insCCCGTCTGGGAATG MANE Select	ENSP00000271643.4:n.213_214insCCCGTCTGGGAATG
ENST00000674043.1:c.213_214insCCCGTCTGGGAATG	ENSP00000501295.1:n.213_214insCCCGTCTGGGAATG
ENST00000674058.1:c.213_214insCCCGTCTGGGAATG	ENSP00000501255.1:n.213_214insCCCGTCTGGGAATG
ENST00000271643.8:c.213_214insCCCGTCTGGGAATG	ENSP00000271643.4:n.213_214insCCCGTCTGGGAATG
ENST00000369038.6:c.213_214insCCCGTCTGGGAATG	ENSP00000358034.2:n.213_214insCCCGTCTGGGAATG
ENST00000369039.9:c.213_214insCCCGTCTGGGAATG	ENSP00000358035.5:n.213_214insCCCGTCTGGGAATG
ENST00000489159.1:n.1275_1276insCCCGTCTGGGAATG
ENST00000622417.4:c.742_743insCCCGTCTGGGAATG	ENSP00000477897.1:n.742_743insCCCGTCTGGGAATG
NM_001288607.1:c.213_214insCCCGTCTGGGAATG	NP_001275536.1:n.213_214insCCCGTCTGGGAATG
NM_001288608.1:c.213_214insCCCGTCTGGGAATG	NP_001275537.1:n.213_214insCCCGTCTGGGAATG
NM_019032.5:c.213_214insCCCGTCTGGGAATG	NP_061905.2:n.213_214insCCCGTCTGGGAATG
XM_011509644.1:c.213_214insCCCGTCTGGGAATG	XP_011507946.1:n.213_214insCCCGTCTGGGAATG
XM_011509645.1:c.213_214insCCCGTCTGGGAATG	XP_011507947.1:n.213_214insCCCGTCTGGGAATG
XM_011509646.1:c.213_214insCCCGTCTGGGAATG	XP_011507948.1:n.213_214insCCCGTCTGGGAATG
XM_011509647.1:c.213_214insCCCGTCTGGGAATG	XP_011507949.1:n.213_214insCCCGTCTGGGAATG
XM_011509648.1:c.213_214insCCCGTCTGGGAATG	XP_011507950.1:n.213_214insCCCGTCTGGGAATG
XM_011509651.1:c.213_214insCCCGTCTGGGAATG	XP_011507953.1:n.213_214insCCCGTCTGGGAATG
XM_011509652.1:c.213_214insCCCGTCTGGGAATG	XP_011507954.1:n.213_214insCCCGTCTGGGAATG
XR_921844.1:n.4007_4008insCCCGTCTGGGAATG
XM_011509644.3:c.213_214insCCCGTCTGGGAATG	XP_011507946.1:n.213_214insCCCGTCTGGGAATG
XM_011509645.3:c.213_214insCCCGTCTGGGAATG	XP_011507947.1:n.213_214insCCCGTCTGGGAATG
XM_011509648.3:c.213_214insCCCGTCTGGGAATG	XP_011507950.1:n.213_214insCCCGTCTGGGAATG
XM_011509651.2:c.213_214insCCCGTCTGGGAATG	XP_011507953.1:n.213_214insCCCGTCTGGGAATG
XM_011509652.2:c.213_214insCCCGTCTGGGAATG	XP_011507954.1:n.213_214insCCCGTCTGGGAATG
XM_017001506.2:c.213_214insCCCGTCTGGGAATG	XP_016856995.1:n.213_214insCCCGTCTGGGAATG
XM_017001507.1:c.213_214insCCCGTCTGGGAATG	XP_016856996.1:n.213_214insCCCGTCTGGGAATG
XR_921844.3:n.3980_3981insCCCGTCTGGGAATG
NM_001288607.2:c.213_214insCCCGTCTGGGAATG	NP_001275536.1:n.213_214insCCCGTCTGGGAATG
NM_001288608.2:c.213_214insCCCGTCTGGGAATG	NP_001275537.1:n.213_214insCCCGTCTGGGAATG
NM_001378596.1:c.213_214insCCCGTCTGGGAATG	NP_001365525.1:n.213_214insCCCGTCTGGGAATG
NM_019032.6:c.213_214insCCCGTCTGGGAATG MANE Select	NP_061905.2:n.213_214insCCCGTCTGGGAATG

HGVS	Amino-acid Change
ENST00000271643.9:c.213_214insCCCGTCTGGGAATG MANE Select	ENSP00000271643.4:n.213_214insCCCGTCTGGGAATG
ENST00000674043.1:c.213_214insCCCGTCTGGGAATG	ENSP00000501295.1:n.213_214insCCCGTCTGGGAATG
ENST00000674058.1:c.213_214insCCCGTCTGGGAATG	ENSP00000501255.1:n.213_214insCCCGTCTGGGAATG
ENST00000271643.8:c.213_214insCCCGTCTGGGAATG	ENSP00000271643.4:n.213_214insCCCGTCTGGGAATG
ENST00000369038.6:c.213_214insCCCGTCTGGGAATG	ENSP00000358034.2:n.213_214insCCCGTCTGGGAATG
ENST00000369039.9:c.213_214insCCCGTCTGGGAATG	ENSP00000358035.5:n.213_214insCCCGTCTGGGAATG
ENST00000489159.1:n.1275_1276insCCCGTCTGGGAATG
ENST00000622417.4:c.742_743insCCCGTCTGGGAATG	ENSP00000477897.1:n.742_743insCCCGTCTGGGAATG
NM_001288607.1:c.213_214insCCCGTCTGGGAATG	NP_001275536.1:n.213_214insCCCGTCTGGGAATG
NM_001288608.1:c.213_214insCCCGTCTGGGAATG	NP_001275537.1:n.213_214insCCCGTCTGGGAATG
NM_019032.5:c.213_214insCCCGTCTGGGAATG	NP_061905.2:n.213_214insCCCGTCTGGGAATG
XM_011509644.1:c.213_214insCCCGTCTGGGAATG	XP_011507946.1:n.213_214insCCCGTCTGGGAATG
XM_011509645.1:c.213_214insCCCGTCTGGGAATG	XP_011507947.1:n.213_214insCCCGTCTGGGAATG
XM_011509646.1:c.213_214insCCCGTCTGGGAATG	XP_011507948.1:n.213_214insCCCGTCTGGGAATG
XM_011509647.1:c.213_214insCCCGTCTGGGAATG	XP_011507949.1:n.213_214insCCCGTCTGGGAATG
XM_011509648.1:c.213_214insCCCGTCTGGGAATG	XP_011507950.1:n.213_214insCCCGTCTGGGAATG
XM_011509651.1:c.213_214insCCCGTCTGGGAATG	XP_011507953.1:n.213_214insCCCGTCTGGGAATG
XM_011509652.1:c.213_214insCCCGTCTGGGAATG	XP_011507954.1:n.213_214insCCCGTCTGGGAATG
XR_921844.1:n.4007_4008insCCCGTCTGGGAATG
XM_011509644.3:c.213_214insCCCGTCTGGGAATG	XP_011507946.1:n.213_214insCCCGTCTGGGAATG
XM_011509645.3:c.213_214insCCCGTCTGGGAATG	XP_011507947.1:n.213_214insCCCGTCTGGGAATG
XM_011509648.3:c.213_214insCCCGTCTGGGAATG	XP_011507950.1:n.213_214insCCCGTCTGGGAATG
XM_011509651.2:c.213_214insCCCGTCTGGGAATG	XP_011507953.1:n.213_214insCCCGTCTGGGAATG
XM_011509652.2:c.213_214insCCCGTCTGGGAATG	XP_011507954.1:n.213_214insCCCGTCTGGGAATG
XM_017001506.2:c.213_214insCCCGTCTGGGAATG	XP_016856995.1:n.213_214insCCCGTCTGGGAATG
XM_017001507.1:c.213_214insCCCGTCTGGGAATG	XP_016856996.1:n.213_214insCCCGTCTGGGAATG
XR_921844.3:n.3980_3981insCCCGTCTGGGAATG
NM_001288607.2:c.213_214insCCCGTCTGGGAATG	NP_001275536.1:n.213_214insCCCGTCTGGGAATG
NM_001288608.2:c.213_214insCCCGTCTGGGAATG	NP_001275537.1:n.213_214insCCCGTCTGGGAATG
NM_001378596.1:c.213_214insCCCGTCTGGGAATG	NP_001365525.1:n.213_214insCCCGTCTGGGAATG
NM_019032.6:c.213_214insCCCGTCTGGGAATG MANE Select	NP_061905.2:n.213_214insCCCGTCTGGGAATG