Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124411984_124411985del , CM000672.2:g.124411984_124411985del	GRCh38
NC_000010.10:g.126100553_126100554del , CM000672.1:g.126100553_126100554del	GRCh37
NC_000010.9:g.126090543_126090544del	NCBI36
NG_008861.1:g.11971_11972del , LRG_685:g.11971_11972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.192_193del MANE Select	ENSP00000357838.5:p.Gly65LysfsTer15
ENST00000368845.5:c.192_193del	ENSP00000357838.5:p.Gly65LysfsTer15
ENST00000476917.5:n.257_258del
ENST00000490096.5:n.428_429del
ENST00000492376.1:n.540_541del
ENST00000539214.5:c.-215-3015_-215-3014del	ENSP00000439042.1:n.-215-3015_-215-3014del
NM_000274.3:c.192_193del , LRG_685t1:c.192_193del	NP_000265.1:p.Gly65LysfsTer15
NM_001171814.1:c.-215-3015_-215-3014del	NP_001165285.1:n.-215-3015_-215-3014del
XM_006717871.2:c.192_193del	XP_006717934.1:p.Gly65LysfsTer15
XM_011539833.1:c.192_193del	XP_011538135.1:p.Gly65LysfsTer15
XM_011539834.1:c.192_193del	XP_011538136.1:p.Gly65LysfsTer15
NM_001322965.1:c.192_193del	NP_001309894.1:p.Gly65LysfsTer15
NM_001322966.1:c.192_193del	NP_001309895.1:p.Gly65LysfsTer15
NM_001322967.1:c.192_193del	NP_001309896.1:p.Gly65LysfsTer15
NM_001322968.1:c.192_193del	NP_001309897.1:p.Gly65LysfsTer15
NM_001322969.1:c.192_193del	NP_001309898.1:p.Gly65LysfsTer15
NM_001322970.1:c.192_193del	NP_001309899.1:p.Gly65LysfsTer15
NM_001322971.1:c.192_193del	NP_001309900.1:p.Gly65LysfsTer8
NM_001322974.1:c.-515-3015_-515-3014del	NP_001309903.1:n.-515-3015_-515-3014del
XM_017016279.1:c.-2262_-2261del	XP_016871768.1:n.-2262_-2261del
NM_000274.4:c.192_193del MANE Select	NP_000265.1:p.Gly65LysfsTer15
NM_001322965.2:c.192_193del	NP_001309894.1:p.Gly65LysfsTer15
NM_001322966.2:c.192_193del	NP_001309895.1:p.Gly65LysfsTer15
NM_001322967.2:c.192_193del	NP_001309896.1:p.Gly65LysfsTer15
NM_001322968.2:c.192_193del	NP_001309897.1:p.Gly65LysfsTer15
NM_001322969.2:c.192_193del	NP_001309898.1:p.Gly65LysfsTer15
NM_001322970.2:c.192_193del	NP_001309899.1:p.Gly65LysfsTer15
NM_001322971.2:c.192_193del	NP_001309900.1:p.Gly65LysfsTer8
NM_001322974.2:c.-515-3015_-515-3014del	NP_001309903.1:n.-515-3015_-515-3014del
NM_001171814.2:c.-215-3015_-215-3014del	NP_001165285.1:n.-215-3015_-215-3014del