Canonical Allele Identifier: CA2466544152
Gene: HCFC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153965837_153965838delinsAG , CM000685.2:g.153965837_153965838delinsAG GRCh38
NC_000023.10:g.153231288_153231289delinsAG , CM000685.1:g.153231288_153231289delinsAG GRCh37
NC_000023.9:g.152884482_152884483delinsAG NCBI36
NG_012513.1:g.10531_10532delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000310441.12:c.194-1112_194-1111delinsCT MANE Select ENSP00000309555.7:n.194-1112_194-1111delinsCT
ENST00000310441.11:c.194-1112_194-1111delinsCT ENSP00000309555.7:n.194-1112_194-1111delinsCT
ENST00000369984.4:c.194-1112_194-1111delinsCT ENSP00000359001.4:n.194-1112_194-1111delinsCT
NM_005334.2:c.194-1112_194-1111delinsCT NP_005325.2:n.194-1112_194-1111delinsCT
XM_006724815.1:c.194-1112_194-1111delinsCT XP_006724878.1:n.194-1112_194-1111delinsCT
XM_006724816.1:c.194-1112_194-1111delinsCT XP_006724879.1:n.194-1112_194-1111delinsCT
XM_011531144.1:c.194-1112_194-1111delinsCT XP_011529446.1:n.194-1112_194-1111delinsCT
XM_011531145.1:c.194-1112_194-1111delinsCT XP_011529447.1:n.194-1112_194-1111delinsCT
XM_011531146.1:c.194-1112_194-1111delinsCT XP_011529448.1:n.194-1112_194-1111delinsCT
XM_011531147.1:c.194-1112_194-1111delinsCT XP_011529449.1:n.194-1112_194-1111delinsCT
XM_011531148.1:c.194-1112_194-1111delinsCT XP_011529450.1:n.194-1112_194-1111delinsCT
XM_011531149.1:c.194-1112_194-1111delinsCT XP_011529451.1:n.194-1112_194-1111delinsCT
XM_006724815.3:c.194-1112_194-1111delinsCT XP_006724878.1:n.194-1112_194-1111delinsCT
XM_006724816.3:c.194-1112_194-1111delinsCT XP_006724879.1:n.194-1112_194-1111delinsCT
XM_011531147.3:c.194-1112_194-1111delinsCT XP_011529449.1:n.194-1112_194-1111delinsCT
XM_011531148.3:c.194-1112_194-1111delinsCT XP_011529450.1:n.194-1112_194-1111delinsCT
XM_017029471.2:c.194-1112_194-1111delinsCT XP_016884960.1:n.194-1112_194-1111delinsCT
NM_005334.3:c.194-1112_194-1111delinsCT MANE Select NP_005325.2:n.194-1112_194-1111delinsCT