Canonical Allele Identifier: CA870004300

Gene: HCCS ARHGAP6

Linked Data

• dbSNP Id: rs1320982991
• gnomAD v4: X-11120814-GA-G
• MyVariant Identifiers: chrX:g.11138935del (hg19) ; chrX:g.11120815del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11120821del , CM000685.2:g.11120821del	GRCh38
NC_000023.10:g.11138941del , CM000685.1:g.11138941del	GRCh37
NC_000023.9:g.11048862del	NCBI36
NG_016460.1:g.14527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380762.5:c.522-86del (HCCS) MANE Select	ENSP00000370139.4:n.522-86del
ENST00000657361.1:c.1733-770del (ARHGAP6)	ENSP00000499351.1:n.1733-770del
ENST00000321143.8:c.522-86del (HCCS)	ENSP00000326579.4:n.522-86del
ENST00000380762.4:c.522-86del (HCCS)	ENSP00000370139.4:n.522-86del
ENST00000380763.7:c.522-86del (HCCS)	ENSP00000370140.3:n.522-86del
NM_001122608.2:c.522-86del (HCCS)	NP_001116080.1:n.522-86del
NM_001171991.2:c.522-86del (HCCS)	NP_001165462.1:n.522-86del
NM_005333.4:c.522-86del (HCCS)	NP_005324.3:n.522-86del
XM_024452368.1:c.582-86del (HCCS)	XP_024308136.1:n.582-86del
NM_005333.5:c.522-86del (HCCS) MANE Select	NP_005324.3:n.522-86del
NM_001122608.3:c.522-86del (HCCS)	NP_001116080.1:n.522-86del
NM_001171991.3:c.522-86del (HCCS)	NP_001165462.1:n.522-86del