Canonical Allele Identifier: CA645289623

Gene: HCFC1

Linked Data

• dbSNP Id: rs1557113900
• gnomAD v2: X-153219999-GTGGCCGA-G
• gnomAD v3: X-153954548-GTGGCCGA-G
• gnomAD v4: X-153954548-GTGGCCGA-G
• MyVariant Identifiers: chrX:g.153220000_153220006del (hg19) ; chrX:g.153954549_153954555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153954549_153954555del , CM000685.2:g.153954549_153954555del	GRCh38
NC_000023.10:g.153220000_153220006del , CM000685.1:g.153220000_153220006del	GRCh37
NC_000023.9:g.152873194_152873200del	NCBI36
NG_012513.1:g.21814_21820del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310441.12:c.3844_3850del MANE Select	ENSP00000309555.7:p.Ser1282ProfsTer2
ENST00000310441.11:c.3844_3850del	ENSP00000309555.7:p.Ser1282ProfsTer2
ENST00000369984.4:c.3844_3850del	ENSP00000359001.4:p.Ser1282ProfsTer2
NM_005334.2:c.3844_3850del	NP_005325.2:p.Ser1282ProfsTer2
XM_006724815.1:c.3844_3850del	XP_006724878.1:p.Ser1282ProfsTer2
XM_006724816.1:c.3844_3850del	XP_006724879.1:p.Ser1282ProfsTer2
XM_011531144.1:c.3844_3850del	XP_011529446.1:p.Ser1282ProfsTer2
XM_011531145.1:c.3844_3850del	XP_011529447.1:p.Ser1282ProfsTer2
XM_011531146.1:c.3844_3850del	XP_011529448.1:p.Ser1282ProfsTer2
XM_011531147.1:c.3844_3850del	XP_011529449.1:p.Ser1282ProfsTer2
XM_011531148.1:c.3844_3850del	XP_011529450.1:p.Ser1282ProfsTer2
XM_011531149.1:c.3646_3652del	XP_011529451.1:p.Ser1216ProfsTer2
XM_011531150.1:c.2935_2941del	XP_011529452.1:p.Ser979ProfsTer2
XM_006724815.3:c.3844_3850del	XP_006724878.1:p.Ser1282ProfsTer2
XM_006724816.3:c.3844_3850del	XP_006724879.1:p.Ser1282ProfsTer2
XM_011531147.3:c.3844_3850del	XP_011529449.1:p.Ser1282ProfsTer2
XM_011531148.3:c.3844_3850del	XP_011529450.1:p.Ser1282ProfsTer2
XM_017029471.2:c.3646_3652del	XP_016884960.1:p.Ser1216ProfsTer2
XM_017029472.1:c.2935_2941del	XP_016884961.1:p.Ser979ProfsTer2
NM_005334.3:c.3844_3850del MANE Select	NP_005325.2:p.Ser1282ProfsTer2