Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75352790_75352792delinsCTG , CM000667.2:g.75352790_75352792delinsCTG	GRCh38
NC_000005.9:g.74648615_74648617delinsCTG , CM000667.1:g.74648615_74648617delinsCTG	GRCh37
NC_000005.8:g.74684371_74684373delinsCTG	NCBI36
NG_011449.1:g.20623_20625delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.1368+1188_1368+1190delinsCTG MANE Select	ENSP00000287936.4:n.1368+1188_1368+1190delinsCTG
ENST00000679456.1:n.2205+1188_2205+1190delinsCTG
ENST00000680160.1:c.1368+1188_1368+1190delinsCTG	ENSP00000505315.1:n.1368+1188_1368+1190delinsCTG
ENST00000680940.1:c.1368+1188_1368+1190delinsCTG	ENSP00000505561.1:n.1368+1188_1368+1190delinsCTG
ENST00000681271.1:c.1368+1188_1368+1190delinsCTG	ENSP00000505805.1:n.1368+1188_1368+1190delinsCTG
ENST00000681410.1:c.1368+1188_1368+1190delinsCTG	ENSP00000506232.1:n.1368+1188_1368+1190delinsCTG
ENST00000681567.1:c.1917+1188_1917+1190delinsCTG	ENSP00000506708.1:n.1917+1188_1917+1190delinsCTG
ENST00000287936.8:c.1368+1188_1368+1190delinsCTG	ENSP00000287936.4:n.1368+1188_1368+1190delinsCTG
ENST00000343975.9:c.1368+1188_1368+1190delinsCTG	ENSP00000340816.5:n.1368+1188_1368+1190delinsCTG
ENST00000511206.5:c.1368+1188_1368+1190delinsCTG	ENSP00000426745.1:n.1368+1188_1368+1190delinsCTG
NM_000859.2:c.1368+1188_1368+1190delinsCTG	NP_000850.1:n.1368+1188_1368+1190delinsCTG
NM_001130996.1:c.1368+1188_1368+1190delinsCTG	NP_001124468.1:n.1368+1188_1368+1190delinsCTG
XM_011543357.1:c.1428+1188_1428+1190delinsCTG	XP_011541659.1:n.1428+1188_1428+1190delinsCTG
XM_011543358.1:c.1368+1188_1368+1190delinsCTG	XP_011541660.1:n.1368+1188_1368+1190delinsCTG
XM_011543359.1:c.1428+1188_1428+1190delinsCTG	XP_011541661.1:n.1428+1188_1428+1190delinsCTG
NM_001364187.1:c.1368+1188_1368+1190delinsCTG	NP_001351116.1:n.1368+1188_1368+1190delinsCTG
NM_000859.3:c.1368+1188_1368+1190delinsCTG MANE Select	NP_000850.1:n.1368+1188_1368+1190delinsCTG
NM_001130996.2:c.1368+1188_1368+1190delinsCTG	NP_001124468.1:n.1368+1188_1368+1190delinsCTG