Canonical Allele Identifier: CA16617137

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 424562
• ClinVar RCV Id: RCV000486891
• dbSNP Id: rs1064797043
• MyVariant Identifiers: chr1:g.27876869_27876872del (hg19) ; chr1:g.27550358_27550361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27550361_27550364del , CM000663.2:g.27550361_27550364del	GRCh38
NC_000001.10:g.27876872_27876875del , CM000663.1:g.27876872_27876875del	GRCh37
NC_000001.9:g.27749459_27749462del	NCBI36
NG_034158.1:g.58134_58137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247087.10:c.1755_1758del	ENSP00000247087.4:p.Lys585AsnfsTer?
ENST00000642245.1:c.1755_1758del	ENSP00000495072.1:p.Lys585AsnfsTer?
ENST00000642416.1:c.1755_1758del	ENSP00000494394.1:p.Lys585AsnfsTer?
ENST00000644989.1:c.1755_1758del	ENSP00000495665.1:p.Lys585AsnfsTer?
ENST00000673934.1:c.1755_1758del MANE Select	ENSP00000501218.1:p.Lys585AsnfsTer?
ENST00000247087.9:c.1755_1758del	ENSP00000247087.4:p.Lys585AsnfsTer?
ENST00000374011.6:c.1755_1758del	ENSP00000363123.2:p.Lys585AsnfsTer?
NM_001029882.3:c.1755_1758del	NP_001025053.1:p.Lys585AsnfsTer?
XM_005245848.2:c.1755_1758del	XP_005245905.1:p.Lys585AsnfsTer?
XM_005245849.2:c.1755_1758del	XP_005245906.1:p.Lys585AsnfsTer?
XM_005245850.2:c.1755_1758del	XP_005245907.1:p.Lys585AsnfsTer?
XM_005245851.2:c.1755_1758del	XP_005245908.1:p.Lys585AsnfsTer?
XM_005245852.2:c.1755_1758del	XP_005245909.1:p.Lys585AsnfsTer?
XM_011541255.1:c.1755_1758del	XP_011539557.1:p.Lys585AsnfsTer?
XM_011541256.1:c.1755_1758del	XP_011539558.1:p.Lys585AsnfsTer?
XM_011541257.1:c.1755_1758del	XP_011539559.1:p.Lys585AsnfsTer?
XR_946609.1:n.2712_2715del
XM_005245848.3:c.1755_1758del	XP_005245905.1:p.Lys585AsnfsTer?
XM_005245849.3:c.1755_1758del	XP_005245906.1:p.Lys585AsnfsTer?
XM_005245850.3:c.1755_1758del	XP_005245907.1:p.Lys585AsnfsTer?
XM_005245851.3:c.1755_1758del	XP_005245908.1:p.Lys585AsnfsTer?
XM_005245852.3:c.1755_1758del	XP_005245909.1:p.Lys585AsnfsTer?
XM_011541256.2:c.1755_1758del	XP_011539558.1:p.Lys585AsnfsTer?
XM_011541257.2:c.1755_1758del	XP_011539559.1:p.Lys585AsnfsTer?
XM_024446461.1:c.1755_1758del	XP_024302229.1:p.Lys585AsnfsTer?
XR_946609.2:n.2822_2825del
NM_001371928.1:c.1755_1758del MANE Select	NP_001358857.1:p.Lys585AsnfsTer?