Canonical Allele Identifier: CA2579735262

Gene: HCFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153954651del , CM000685.2:g.153954651del	GRCh38
NC_000023.10:g.153220102del , CM000685.1:g.153220102del	GRCh37
NC_000023.9:g.152873296del	NCBI36
NG_012513.1:g.21721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310441.12:c.3751del MANE Select	ENSP00000309555.7:p.Glu1251SerfsTer20
ENST00000310441.11:c.3751del	ENSP00000309555.7:p.Glu1251SerfsTer20
ENST00000369984.4:c.3751del	ENSP00000359001.4:p.Glu1251SerfsTer20
NM_005334.2:c.3751del	NP_005325.2:p.Glu1251SerfsTer20
XM_006724815.1:c.3751del	XP_006724878.1:p.Glu1251SerfsTer20
XM_006724816.1:c.3751del	XP_006724879.1:p.Glu1251SerfsTer20
XM_011531144.1:c.3751del	XP_011529446.1:p.Glu1251SerfsTer20
XM_011531145.1:c.3751del	XP_011529447.1:p.Glu1251SerfsTer20
XM_011531146.1:c.3751del	XP_011529448.1:p.Glu1251SerfsTer20
XM_011531147.1:c.3751del	XP_011529449.1:p.Glu1251SerfsTer20
XM_011531148.1:c.3751del	XP_011529450.1:p.Glu1251SerfsTer20
XM_011531149.1:c.3553del	XP_011529451.1:p.Glu1185SerfsTer20
XM_011531150.1:c.2842del	XP_011529452.1:p.Glu948SerfsTer20
XM_006724815.3:c.3751del	XP_006724878.1:p.Glu1251SerfsTer20
XM_006724816.3:c.3751del	XP_006724879.1:p.Glu1251SerfsTer20
XM_011531147.3:c.3751del	XP_011529449.1:p.Glu1251SerfsTer20
XM_011531148.3:c.3751del	XP_011529450.1:p.Glu1251SerfsTer20
XM_017029471.2:c.3553del	XP_016884960.1:p.Glu1185SerfsTer20
XM_017029472.1:c.2842del	XP_016884961.1:p.Glu948SerfsTer20
NM_005334.3:c.3751del MANE Select	NP_005325.2:p.Glu1251SerfsTer20