Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874138_68874139delinsGT , CM000676.2:g.68874138_68874139delinsGT	GRCh38
NC_000014.8:g.69340855_69340856delinsGT , CM000676.1:g.69340855_69340856delinsGT	GRCh37
NC_000014.7:g.68410608_68410609delinsGT	NCBI36
NG_029480.1:g.110228_110229delinsAC , LRG_886:g.110228_110229delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2897_2898delinsAC
ENST00000682130.1:n.4706_4707delinsAC
ENST00000682291.1:c.720_721delinsAC	ENSP00000507093.1:n.720_721delinsAC
ENST00000682298.1:n.5055_5056delinsAC
ENST00000682331.1:c.720_721delinsAC	ENSP00000508329.1:n.720_721delinsAC
ENST00000682378.1:n.5435_5436delinsAC
ENST00000682381.1:n.4970_4971delinsAC
ENST00000682522.1:n.3354_3355delinsAC
ENST00000683069.1:n.4801_4802delinsAC
ENST00000683198.1:c.720_721delinsAC	ENSP00000507889.1:n.720_721delinsAC
ENST00000683225.1:c.720_721delinsAC	ENSP00000506977.1:n.720_721delinsAC
ENST00000683267.1:c.2677_2678delinsAC	ENSP00000508356.1:n.2677_2678delinsAC
ENST00000683780.1:n.4311_4312delinsAC
ENST00000684146.1:n.4218_4219delinsAC
ENST00000684182.1:c.720_721delinsAC	ENSP00000508177.1:n.720_721delinsAC
ENST00000684287.1:n.2731_2732delinsAC
ENST00000684340.1:n.4889_4890delinsAC
ENST00000684598.1:c.720_721delinsAC	ENSP00000507785.1:n.720_721delinsAC
ENST00000684638.1:c.2743_2744delinsAC	ENSP00000507609.1:n.2743_2744delinsAC
ENST00000684639.1:c.720_721delinsAC	ENSP00000507653.1:n.720_721delinsAC
ENST00000394419.9:c.720_721delinsAC MANE Select	ENSP00000377941.4:n.720_721delinsAC
NM_001102.3:c.720_721delinsAC	NP_001093.1:n.720_721delinsAC
NM_001130004.1:c.720_721delinsAC , LRG_886t1:c.720_721delinsAC	NP_001123476.1:n.720_721delinsAC
NM_001130005.1:c.720_721delinsAC	NP_001123477.1:n.720_721delinsAC
XM_011537265.1:c.720_721delinsAC	XP_011535567.1:n.720_721delinsAC
XM_011537266.1:c.720_721delinsAC	XP_011535568.1:n.720_721delinsAC
XM_011537267.1:c.720_721delinsAC	XP_011535569.1:n.720_721delinsAC
XM_011537268.1:c.720_721delinsAC	XP_011535570.1:n.720_721delinsAC
XM_011537269.1:c.720_721delinsAC	XP_011535571.1:n.720_721delinsAC
XM_011537270.1:c.720_721delinsAC	XP_011535572.1:n.720_721delinsAC
XM_011537271.1:c.720_721delinsAC	XP_011535573.1:n.720_721delinsAC
XM_011537265.2:c.720_721delinsAC	XP_011535567.1:n.720_721delinsAC
XM_011537266.3:c.720_721delinsAC	XP_011535568.1:n.720_721delinsAC
XM_011537267.3:c.720_721delinsAC	XP_011535569.1:n.720_721delinsAC
XM_011537268.3:c.720_721delinsAC	XP_011535570.1:n.720_721delinsAC
XM_017021720.1:c.720_721delinsAC	XP_016877209.1:n.720_721delinsAC
XM_017021722.2:c.720_721delinsAC	XP_016877211.1:n.720_721delinsAC
XM_017021725.1:c.720_721delinsAC	XP_016877214.1:n.720_721delinsAC
XM_017021727.2:c.720_721delinsAC	XP_016877216.1:n.720_721delinsAC
XM_017021728.2:c.720_721delinsAC	XP_016877217.1:n.720_721delinsAC
NM_001102.4:c.720_721delinsAC	NP_001093.1:n.720_721delinsAC
NM_001130005.2:c.720_721delinsAC	NP_001123477.1:n.720_721delinsAC
NM_001130004.2:c.720_721delinsAC MANE Select	NP_001123476.1:n.720_721delinsAC

HGVS	Amino-acid Change
ENST00000553882.2:n.2897_2898delinsAC
ENST00000682130.1:n.4706_4707delinsAC
ENST00000682291.1:c.720_721delinsAC	ENSP00000507093.1:n.720_721delinsAC
ENST00000682298.1:n.5055_5056delinsAC
ENST00000682331.1:c.720_721delinsAC	ENSP00000508329.1:n.720_721delinsAC
ENST00000682378.1:n.5435_5436delinsAC
ENST00000682381.1:n.4970_4971delinsAC
ENST00000682522.1:n.3354_3355delinsAC
ENST00000683069.1:n.4801_4802delinsAC
ENST00000683198.1:c.720_721delinsAC	ENSP00000507889.1:n.720_721delinsAC
ENST00000683225.1:c.720_721delinsAC	ENSP00000506977.1:n.720_721delinsAC
ENST00000683267.1:c.2677_2678delinsAC	ENSP00000508356.1:n.2677_2678delinsAC
ENST00000683780.1:n.4311_4312delinsAC
ENST00000684146.1:n.4218_4219delinsAC
ENST00000684182.1:c.720_721delinsAC	ENSP00000508177.1:n.720_721delinsAC
ENST00000684287.1:n.2731_2732delinsAC
ENST00000684340.1:n.4889_4890delinsAC
ENST00000684598.1:c.720_721delinsAC	ENSP00000507785.1:n.720_721delinsAC
ENST00000684638.1:c.2743_2744delinsAC	ENSP00000507609.1:n.2743_2744delinsAC
ENST00000684639.1:c.720_721delinsAC	ENSP00000507653.1:n.720_721delinsAC
ENST00000394419.9:c.720_721delinsAC MANE Select	ENSP00000377941.4:n.720_721delinsAC
NM_001102.3:c.720_721delinsAC	NP_001093.1:n.720_721delinsAC
NM_001130004.1:c.720_721delinsAC , LRG_886t1:c.720_721delinsAC	NP_001123476.1:n.720_721delinsAC
NM_001130005.1:c.720_721delinsAC	NP_001123477.1:n.720_721delinsAC
XM_011537265.1:c.720_721delinsAC	XP_011535567.1:n.720_721delinsAC
XM_011537266.1:c.720_721delinsAC	XP_011535568.1:n.720_721delinsAC
XM_011537267.1:c.720_721delinsAC	XP_011535569.1:n.720_721delinsAC
XM_011537268.1:c.720_721delinsAC	XP_011535570.1:n.720_721delinsAC
XM_011537269.1:c.720_721delinsAC	XP_011535571.1:n.720_721delinsAC
XM_011537270.1:c.720_721delinsAC	XP_011535572.1:n.720_721delinsAC
XM_011537271.1:c.720_721delinsAC	XP_011535573.1:n.720_721delinsAC
XM_011537265.2:c.720_721delinsAC	XP_011535567.1:n.720_721delinsAC
XM_011537266.3:c.720_721delinsAC	XP_011535568.1:n.720_721delinsAC
XM_011537267.3:c.720_721delinsAC	XP_011535569.1:n.720_721delinsAC
XM_011537268.3:c.720_721delinsAC	XP_011535570.1:n.720_721delinsAC
XM_017021720.1:c.720_721delinsAC	XP_016877209.1:n.720_721delinsAC
XM_017021722.2:c.720_721delinsAC	XP_016877211.1:n.720_721delinsAC
XM_017021725.1:c.720_721delinsAC	XP_016877214.1:n.720_721delinsAC
XM_017021727.2:c.720_721delinsAC	XP_016877216.1:n.720_721delinsAC
XM_017021728.2:c.720_721delinsAC	XP_016877217.1:n.720_721delinsAC
NM_001102.4:c.720_721delinsAC	NP_001093.1:n.720_721delinsAC
NM_001130005.2:c.720_721delinsAC	NP_001123477.1:n.720_721delinsAC
NM_001130004.2:c.720_721delinsAC MANE Select	NP_001123476.1:n.720_721delinsAC