Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957966_87957968delinsAAA , CM000672.2:g.87957966_87957968delinsAAA	GRCh38
NC_000010.10:g.89717723_89717725delinsAAA , CM000672.1:g.89717723_89717725delinsAAA	GRCh37
NC_000010.9:g.89707703_89707705delinsAAA	NCBI36
NG_007466.2:g.99528_99530delinsAAA , LRG_311:g.99528_99530delinsAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.748_750delinsAAA	ENSP00000514759.2:p.Cys250Lys
ENST00000710265.1:c.748_750delinsAAA	ENSP00000518161.1:p.Cys250Lys
ENST00000472832.3:c.748_750delinsAAA	ENSP00000483066.2:p.Cys250Lys
ENST00000688158.2:n.1483_1485delinsAAA
ENST00000688922.2:c.578_580delinsAAA	ENSP00000508742.2:n.578_580delinsAAA
ENST00000700021.1:c.703_705delinsAAA	ENSP00000514757.1:p.Cys235Lys
ENST00000700022.1:c.87_89delinsAAA	ENSP00000514758.1:n.87_89delinsAAA
ENST00000700023.1:n.1906_1908delinsAAA
ENST00000700024.1:n.2140_2142delinsAAA
ENST00000700025.1:n.1517_1519delinsAAA
ENST00000700026.1:n.385_387delinsAAA
ENST00000700029.1:c.582_584delinsAAA
ENST00000706954.1:c.748_750delinsAAA	ENSP00000516674.1:p.Cys250Lys
ENST00000706955.1:c.783_785delinsAAA	ENSP00000516675.1:n.783_785delinsAAA
ENST00000686459.1:c.334_336delinsAAA	ENSP00000508909.1:n.334_336delinsAAA
ENST00000688158.1:c.859_861delinsAAA	ENSP00000509254.1:n.859_861delinsAAA
ENST00000688308.1:c.748_750delinsAAA	ENSP00000508752.1:p.Cys250Lys
ENST00000688922.1:c.669_671delinsAAA
ENST00000693560.1:c.1267_1269delinsAAA	ENSP00000509861.1:p.Cys423Lys
ENST00000371953.8:c.748_750delinsAAA MANE Select	ENSP00000361021.3:p.Cys250Lys
ENST00000371953.7:c.748_750delinsAAA	ENSP00000361021.3:p.Cys250Lys
ENST00000472832.2:c.175_177delinsAAA	ENSP00000483066.1:p.Cys59Lys
NM_000314.5:c.748_750delinsAAA	NP_000305.3:p.Cys250Lys
NM_000314.6:c.748_750delinsAAA	NP_000305.3:p.Cys250Lys
NM_001304717.2:c.1267_1269delinsAAA	NP_001291646.2:p.Cys423Lys
NM_001304718.1:c.157_159delinsAAA	NP_001291647.1:p.Cys53Lys
XM_006717926.2:c.703_705delinsAAA	XP_006717989.1:p.Cys235Lys
XM_011539981.1:c.748_750delinsAAA	XP_011538283.1:p.Cys250Lys
XM_011539982.1:c.652_654delinsAAA	XP_011538284.1:p.Cys218Lys
XR_945791.1:n.1318_1320delinsAAA
NM_000314.7:c.748_750delinsAAA	NP_000305.3:p.Cys250Lys
NM_001304717.5:c.1267_1269delinsAAA	NP_001291646.4:p.Cys423Lys
NM_001304718.2:c.157_159delinsAAA	NP_001291647.1:p.Cys53Lys
NM_000314.8:c.748_750delinsAAA MANE Select	NP_000305.3:p.Cys250Lys