Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50293372_50293393dup , CM000681.2:g.50293372_50293393dup	GRCh38
NC_000019.9:g.50796629_50796650dup , CM000681.1:g.50796629_50796650dup	GRCh37
NC_000019.8:g.55488441_55488462dup	NCBI36
NG_011645.1:g.94745_94766dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425460.6:c.5246+51_5246+72dup	ENSP00000407879.1:n.5246+51_5246+72dup
ENST00000642316.2:c.5345+51_5345+72dup MANE Select	ENSP00000493594.1:n.5345+51_5345+72dup
ENST00000262269.12:c.706+51_706+72dup	ENSP00000262269.9:n.706+51_706+72dup
ENST00000376970.6:c.5222+51_5222+72dup	ENSP00000366169.3:n.5222+51_5222+72dup
ENST00000425460.5:c.5246+51_5246+72dup	ENSP00000407879.1:n.5246+51_5246+72dup
ENST00000440075.6:c.1151+51_1151+72dup	ENSP00000406273.3:n.1151+51_1151+72dup
ENST00000595016.1:n.2524+51_2524+72dup
ENST00000596571.5:c.5222+51_5222+72dup	ENSP00000472819.1:n.5222+51_5222+72dup
ENST00000598205.5:c.5246+51_5246+72dup	ENSP00000472543.1:n.5246+51_5246+72dup
ENST00000601313.5:c.5345+51_5345+72dup	ENSP00000470298.1:n.5345+51_5345+72dup
NM_001077186.1:c.5246+51_5246+72dup	NP_001070654.1:n.5246+51_5246+72dup
NM_001145809.1:c.5345+51_5345+72dup	NP_001139281.1:n.5345+51_5345+72dup
NM_024729.3:c.5222+51_5222+72dup	NP_079005.3:n.5222+51_5222+72dup
XM_006723386.2:c.5246+51_5246+72dup	XP_006723449.1:n.5246+51_5246+72dup
XM_011527320.1:c.5366+51_5366+72dup	XP_011525622.1:n.5366+51_5366+72dup
XM_011527321.1:c.5342+51_5342+72dup	XP_011525623.1:n.5342+51_5342+72dup
XM_011527322.1:c.5270+51_5270+72dup	XP_011525624.1:n.5270+51_5270+72dup
XM_011527323.1:c.5246+51_5246+72dup	XP_011525625.1:n.5246+51_5246+72dup
XM_006723386.4:c.5246+51_5246+72dup	XP_006723449.1:n.5246+51_5246+72dup
XM_011527320.2:c.5366+51_5366+72dup	XP_011525622.1:n.5366+51_5366+72dup
XM_011527321.2:c.5342+51_5342+72dup	XP_011525623.1:n.5342+51_5342+72dup
XM_011527323.2:c.5246+51_5246+72dup	XP_011525625.1:n.5246+51_5246+72dup
XM_024451721.1:c.5222+51_5222+72dup	XP_024307489.1:n.5222+51_5222+72dup
NM_001077186.2:c.5246+51_5246+72dup	NP_001070654.1:n.5246+51_5246+72dup
NM_001145809.2:c.5345+51_5345+72dup MANE Select	NP_001139281.1:n.5345+51_5345+72dup
NM_024729.4:c.5222+51_5222+72dup	NP_079005.3:n.5222+51_5222+72dup