Canonical Allele Identifier: CA2466540185

Gene: HCFC1

Linked Data

• dbSNP Id: rs2065352058

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153954552_153954553del , CM000685.2:g.153954552_153954553del	GRCh38
NC_000023.10:g.153220003_153220004del , CM000685.1:g.153220003_153220004del	GRCh37
NC_000023.9:g.152873197_152873198del	NCBI36
NG_012513.1:g.21816_21817del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310441.12:c.3846_3847del MANE Select	ENSP00000309555.7:p.Ala1283HisfsTer12
ENST00000310441.11:c.3846_3847del	ENSP00000309555.7:p.Ala1283HisfsTer12
ENST00000369984.4:c.3846_3847del	ENSP00000359001.4:p.Ala1283HisfsTer12
NM_005334.2:c.3846_3847del	NP_005325.2:p.Ala1283HisfsTer12
XM_006724815.1:c.3846_3847del	XP_006724878.1:p.Ala1283HisfsTer12
XM_006724816.1:c.3846_3847del	XP_006724879.1:p.Ala1283HisfsTer12
XM_011531144.1:c.3846_3847del	XP_011529446.1:p.Ala1283HisfsTer12
XM_011531145.1:c.3846_3847del	XP_011529447.1:p.Ala1283HisfsTer12
XM_011531146.1:c.3846_3847del	XP_011529448.1:p.Ala1283HisfsTer12
XM_011531147.1:c.3846_3847del	XP_011529449.1:p.Ala1283HisfsTer12
XM_011531148.1:c.3846_3847del	XP_011529450.1:p.Ala1283HisfsTer12
XM_011531149.1:c.3648_3649del	XP_011529451.1:p.Ala1217HisfsTer12
XM_011531150.1:c.2937_2938del	XP_011529452.1:p.Ala980HisfsTer12
XM_006724815.3:c.3846_3847del	XP_006724878.1:p.Ala1283HisfsTer12
XM_006724816.3:c.3846_3847del	XP_006724879.1:p.Ala1283HisfsTer12
XM_011531147.3:c.3846_3847del	XP_011529449.1:p.Ala1283HisfsTer12
XM_011531148.3:c.3846_3847del	XP_011529450.1:p.Ala1283HisfsTer12
XM_017029471.2:c.3648_3649del	XP_016884960.1:p.Ala1217HisfsTer12
XM_017029472.1:c.2937_2938del	XP_016884961.1:p.Ala980HisfsTer12
NM_005334.3:c.3846_3847del MANE Select	NP_005325.2:p.Ala1283HisfsTer12