Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957999_87958001del , CM000672.2:g.87957999_87958001del	GRCh38
NC_000010.10:g.89717756_89717758del , CM000672.1:g.89717756_89717758del	GRCh37
NC_000010.9:g.89707736_89707738del	NCBI36
NG_007466.2:g.99561_99563del , LRG_311:g.99561_99563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.781_783del	ENSP00000514759.2:p.Gln261del
ENST00000710265.1:c.781_783del	ENSP00000518161.1:p.Gln261del
ENST00000472832.3:c.781_783del	ENSP00000483066.2:p.Gln261del
ENST00000688158.2:n.1516_1518del
ENST00000688922.2:c.611_613del	ENSP00000508742.2:n.611_613del
ENST00000700021.1:c.736_738del	ENSP00000514757.1:p.Gln246del
ENST00000700022.1:c.120_122del	ENSP00000514758.1:n.120_122del
ENST00000700023.1:n.1939_1941del
ENST00000700024.1:n.2173_2175del
ENST00000700025.1:n.1550_1552del
ENST00000700026.1:n.418_420del
ENST00000700029.1:c.615_617del
ENST00000706954.1:c.781_783del	ENSP00000516674.1:p.Gln261del
ENST00000706955.1:c.816_818del	ENSP00000516675.1:n.816_818del
ENST00000686459.1:c.367_369del	ENSP00000508909.1:n.367_369del
ENST00000688158.1:c.892_894del	ENSP00000509254.1:n.892_894del
ENST00000688308.1:c.781_783del	ENSP00000508752.1:p.Gln261del
ENST00000688922.1:c.702_704del
ENST00000693560.1:c.1300_1302del	ENSP00000509861.1:p.Gln434del
ENST00000371953.8:c.781_783del MANE Select	ENSP00000361021.3:p.Gln261del
ENST00000371953.7:c.781_783del	ENSP00000361021.3:p.Gln261del
ENST00000472832.2:c.208_210del	ENSP00000483066.1:p.Gln70del
NM_000314.5:c.781_783del	NP_000305.3:p.Gln261del
NM_000314.6:c.781_783del	NP_000305.3:p.Gln261del
NM_001304717.2:c.1300_1302del	NP_001291646.2:p.Gln434del
NM_001304718.1:c.190_192del	NP_001291647.1:p.Gln64del
XM_006717926.2:c.736_738del	XP_006717989.1:p.Gln246del
XM_011539981.1:c.781_783del	XP_011538283.1:p.Gln261del
XM_011539982.1:c.685_687del	XP_011538284.1:p.Gln229del
XR_945791.1:n.1351_1353del
NM_000314.7:c.781_783del	NP_000305.3:p.Gln261del
NM_001304717.5:c.1300_1302del	NP_001291646.4:p.Gln434del
NM_001304718.2:c.190_192del	NP_001291647.1:p.Gln64del
NM_000314.8:c.781_783del MANE Select	NP_000305.3:p.Gln261del