Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894049_87894050delinsGA , CM000672.2:g.87894049_87894050delinsGA	GRCh38
NC_000010.10:g.89653806_89653807delinsGA , CM000672.1:g.89653806_89653807delinsGA	GRCh37
NC_000010.9:g.89643786_89643787delinsGA	NCBI36
NG_007466.2:g.35611_35612delinsGA , LRG_311:g.35611_35612delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.104_105delinsGA	ENSP00000514759.2:p.Met35Arg
ENST00000710265.1:c.104_105delinsGA	ENSP00000518161.1:p.Met35Arg
ENST00000472832.3:c.104_105delinsGA	ENSP00000483066.2:p.Met35Arg
ENST00000688158.2:n.899+13611_899+13612delinsGA
ENST00000688922.2:c.104_105delinsGA	ENSP00000508742.2:p.Met35Arg
ENST00000700021.1:c.104_105delinsGA	ENSP00000514757.1:p.Met35Arg
ENST00000700022.1:c.104_105delinsGA	ENSP00000514758.1:p.Met35Arg
ENST00000706954.1:c.104_105delinsGA	ENSP00000516674.1:p.Met35Arg
ENST00000706955.1:c.139_140delinsGA	ENSP00000516675.1:n.139_140delinsGA
ENST00000686459.1:c.104_105delinsGA	ENSP00000508909.1:p.Met35Arg
ENST00000688158.1:c.275+13611_275+13612delinsGA	ENSP00000509254.1:n.275+13611_275+13612delinsGA
ENST00000688308.1:c.104_105delinsGA	ENSP00000508752.1:p.Met35Arg
ENST00000693560.1:c.623_624delinsGA	ENSP00000509861.1:p.Met208Arg
ENST00000371953.8:c.104_105delinsGA MANE Select	ENSP00000361021.3:p.Met35Arg
ENST00000371953.7:c.104_105delinsGA	ENSP00000361021.3:p.Met35Arg
ENST00000462694.1:n.106_107delinsGA
ENST00000610634.1:c.2_3delinsGA	ENSP00000477517.1:p.Met1Arg
NM_000314.5:c.104_105delinsGA	NP_000305.3:p.Met35Arg
NM_000314.6:c.104_105delinsGA	NP_000305.3:p.Met35Arg
NM_001304717.2:c.623_624delinsGA	NP_001291646.2:p.Met208Arg
NM_001304718.1:c.-602_-601delinsGA	NP_001291647.1:n.-602_-601delinsGA
XM_006717926.2:c.104_105delinsGA	XP_006717989.1:p.Met35Arg
XM_011539981.1:c.104_105delinsGA	XP_011538283.1:p.Met35Arg
XM_011539982.1:c.68+13611_68+13612delinsGA	XP_011538284.1:n.68+13611_68+13612delinsGA
XR_945789.1:n.816_817delinsGA
XR_945790.1:n.816_817delinsGA
XR_945791.1:n.816_817delinsGA
NM_000314.7:c.104_105delinsGA	NP_000305.3:p.Met35Arg
NM_001304717.5:c.623_624delinsGA	NP_001291646.4:p.Met208Arg
NM_001304718.2:c.-602_-601delinsGA	NP_001291647.1:n.-602_-601delinsGA
NM_000314.8:c.104_105delinsGA MANE Select	NP_000305.3:p.Met35Arg