Canonical Allele Identifier: CA10623248

Gene: ANKH

Linked Data

• ClinVar Variation Id: 351927
• ClinVar RCV Id: RCV000270060 ; RCV000362286 ; RCV001597116 ; RCV002253386
• dbSNP Id: rs139106733
• gnomAD v2: 5-14871620-AGGGGCGAC-A
• gnomAD v3: 5-14871511-AGGGGCGAC-A
• gnomAD v4: 5-14871511-AGGGGCGAC-A
• MyVariant Identifiers: chr5:g.14871621_14871628del (hg19) ; chr5:g.14871512_14871519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871527_14871534del , CM000667.2:g.14871527_14871534del	GRCh38
NC_000005.9:g.14871636_14871643del , CM000667.1:g.14871636_14871643del	GRCh37
NC_000005.8:g.14924636_14924643del	NCBI36
NG_008273.1:g.5260_5267del
NG_008273.2:g.5267_5274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-72_-65del MANE Select	ENSP00000284268.6:n.-72_-65del
ENST00000284268.6:c.-72_-65del	ENSP00000284268.6:n.-72_-65del
ENST00000505140.1:c.-72_-65del	ENSP00000426332.1:n.-72_-65del
NM_054027.4:c.-72_-65del	NP_473368.1:n.-72_-65del
XM_011514067.1:c.-72_-65del	XP_011512369.1:n.-72_-65del
NM_054027.5:c.-72_-65del	NP_473368.1:n.-72_-65del
NM_054027.6:c.-72_-65del MANE Select	NP_473368.1:n.-72_-65del