Canonical Allele Identifier: CA2695088896

Gene: HCFC1

Linked Data

• gnomAD v4: X-153954843-GGGCCCCGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153954848_153954856del , CM000685.2:g.153954848_153954856del	GRCh38
NC_000023.10:g.153220299_153220307del , CM000685.1:g.153220299_153220307del	GRCh37
NC_000023.9:g.152873493_152873501del	NCBI36
NG_012513.1:g.21517_21525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310441.12:c.3547_3555del MANE Select	ENSP00000309555.7:p.Thr1183_Ala1185del
ENST00000310441.11:c.3547_3555del	ENSP00000309555.7:p.Thr1183_Ala1185del
ENST00000369984.4:c.3547_3555del	ENSP00000359001.4:p.Thr1183_Ala1185del
NM_005334.2:c.3547_3555del	NP_005325.2:p.Thr1183_Ala1185del
XM_006724815.1:c.3547_3555del	XP_006724878.1:p.Thr1183_Ala1185del
XM_006724816.1:c.3547_3555del	XP_006724879.1:p.Thr1183_Ala1185del
XM_011531144.1:c.3547_3555del	XP_011529446.1:p.Thr1183_Ala1185del
XM_011531145.1:c.3547_3555del	XP_011529447.1:p.Thr1183_Ala1185del
XM_011531146.1:c.3547_3555del	XP_011529448.1:p.Thr1183_Ala1185del
XM_011531147.1:c.3547_3555del	XP_011529449.1:p.Thr1183_Ala1185del
XM_011531148.1:c.3547_3555del	XP_011529450.1:p.Thr1183_Ala1185del
XM_011531149.1:c.3349_3357del	XP_011529451.1:p.Thr1117_Ala1119del
XM_011531150.1:c.2638_2646del	XP_011529452.1:p.Thr880_Ala882del
XM_006724815.3:c.3547_3555del	XP_006724878.1:p.Thr1183_Ala1185del
XM_006724816.3:c.3547_3555del	XP_006724879.1:p.Thr1183_Ala1185del
XM_011531147.3:c.3547_3555del	XP_011529449.1:p.Thr1183_Ala1185del
XM_011531148.3:c.3547_3555del	XP_011529450.1:p.Thr1183_Ala1185del
XM_017029471.2:c.3349_3357del	XP_016884960.1:p.Thr1117_Ala1119del
XM_017029472.1:c.2638_2646del	XP_016884961.1:p.Thr880_Ala882del
NM_005334.3:c.3547_3555del MANE Select	NP_005325.2:p.Thr1183_Ala1185del