Canonical Allele Identifier: CA2466540182

Gene: HCFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153954548_153954555delinsGTGGCCGA , CM000685.2:g.153954548_153954555delinsGTGGCCGA	GRCh38
NC_000023.10:g.153219999_153220006delinsGTGGCCGA , CM000685.1:g.153219999_153220006delinsGTGGCCGA	GRCh37
NC_000023.9:g.152873193_152873200delinsGTGGCCGA	NCBI36
NG_012513.1:g.21814_21821delinsTCGGCCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000310441.12:c.3844_3851delinsTCGGCCAC MANE Select	ENSP00000309555.7:p.Ser1282=
ENST00000310441.11:c.3844_3851delinsTCGGCCAC	ENSP00000309555.7:p.Ser1282=
ENST00000369984.4:c.3844_3851delinsTCGGCCAC	ENSP00000359001.4:p.Ser1282=
NM_005334.2:c.3844_3851delinsTCGGCCAC	NP_005325.2:p.Ser1282=
XM_006724815.1:c.3844_3851delinsTCGGCCAC	XP_006724878.1:p.Ser1282=
XM_006724816.1:c.3844_3851delinsTCGGCCAC	XP_006724879.1:p.Ser1282=
XM_011531144.1:c.3844_3851delinsTCGGCCAC	XP_011529446.1:p.Ser1282=
XM_011531145.1:c.3844_3851delinsTCGGCCAC	XP_011529447.1:p.Ser1282=
XM_011531146.1:c.3844_3851delinsTCGGCCAC	XP_011529448.1:p.Ser1282=
XM_011531147.1:c.3844_3851delinsTCGGCCAC	XP_011529449.1:p.Ser1282=
XM_011531148.1:c.3844_3851delinsTCGGCCAC	XP_011529450.1:p.Ser1282=
XM_011531149.1:c.3646_3653delinsTCGGCCAC	XP_011529451.1:p.Ser1216=
XM_011531150.1:c.2935_2942delinsTCGGCCAC	XP_011529452.1:p.Ser979=
XM_006724815.3:c.3844_3851delinsTCGGCCAC	XP_006724878.1:p.Ser1282=
XM_006724816.3:c.3844_3851delinsTCGGCCAC	XP_006724879.1:p.Ser1282=
XM_011531147.3:c.3844_3851delinsTCGGCCAC	XP_011529449.1:p.Ser1282=
XM_011531148.3:c.3844_3851delinsTCGGCCAC	XP_011529450.1:p.Ser1282=
XM_017029471.2:c.3646_3653delinsTCGGCCAC	XP_016884960.1:p.Ser1216=
XM_017029472.1:c.2935_2942delinsTCGGCCAC	XP_016884961.1:p.Ser979=
NM_005334.3:c.3844_3851delinsTCGGCCAC MANE Select	NP_005325.2:p.Ser1282=