Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925541_87925543del , CM000672.2:g.87925541_87925543del	GRCh38
NC_000010.10:g.89685298_89685300del , CM000672.1:g.89685298_89685300del	GRCh37
NC_000010.9:g.89675278_89675280del	NCBI36
NG_007466.2:g.67103_67105del , LRG_311:g.67103_67105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.193_195del	ENSP00000514759.2:p.Tyr65del
ENST00000710265.1:c.193_195del	ENSP00000518161.1:p.Tyr65del
ENST00000472832.3:c.193_195del	ENSP00000483066.2:p.Tyr65del
ENST00000688158.2:n.928_930del
ENST00000688922.2:c.193_195del	ENSP00000508742.2:p.Tyr65del
ENST00000700021.1:c.165-5505_165-5503del	ENSP00000514757.1:n.165-5505_165-5503del
ENST00000700022.1:c.193_195del	ENSP00000514758.1:p.Tyr65del
ENST00000700029.1:c.27_29del
ENST00000706954.1:c.193_195del	ENSP00000516674.1:p.Tyr65del
ENST00000706955.1:c.228_230del	ENSP00000516675.1:n.228_230del
ENST00000686459.1:c.193_195del	ENSP00000508909.1:p.Tyr65del
ENST00000688158.1:c.304_306del	ENSP00000509254.1:n.304_306del
ENST00000688308.1:c.193_195del	ENSP00000508752.1:p.Tyr65del
ENST00000688922.1:c.62_64del
ENST00000693560.1:c.712_714del	ENSP00000509861.1:p.Tyr238del
ENST00000371953.8:c.193_195del MANE Select	ENSP00000361021.3:p.Tyr65del
ENST00000371953.7:c.193_195del	ENSP00000361021.3:p.Tyr65del
ENST00000498703.1:n.19_21del
ENST00000610634.1:c.91_93del	ENSP00000477517.1:p.Tyr31del
NM_000314.5:c.193_195del	NP_000305.3:p.Tyr65del
NM_000314.6:c.193_195del	NP_000305.3:p.Tyr65del
NM_001304717.2:c.712_714del	NP_001291646.2:p.Tyr238del
NM_001304718.1:c.-541-5505_-541-5503del	NP_001291647.1:n.-541-5505_-541-5503del
XM_006717926.2:c.165-5505_165-5503del	XP_006717989.1:n.165-5505_165-5503del
XM_011539981.1:c.193_195del	XP_011538283.1:p.Tyr65del
XM_011539982.1:c.97_99del	XP_011538284.1:p.Tyr33del
XR_945789.1:n.905_907del
XR_945790.1:n.905_907del
XR_945791.1:n.905_907del
NM_000314.7:c.193_195del	NP_000305.3:p.Tyr65del
NM_001304717.5:c.712_714del	NP_001291646.4:p.Tyr238del
NM_001304718.2:c.-541-5505_-541-5503del	NP_001291647.1:n.-541-5505_-541-5503del
NM_000314.8:c.193_195del MANE Select	NP_000305.3:p.Tyr65del