Canonical Allele Identifier: CA805272647

Gene: ANKH

Linked Data

• dbSNP Id: rs1418933940
• gnomAD v3: 5-14716775-CGAT-C
• gnomAD v4: 5-14716775-CGAT-C
• MyVariant Identifiers: chr5:g.14716885_14716887del (hg19) ; chr5:g.14716776_14716778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716780_14716782del , CM000667.2:g.14716780_14716782del	GRCh38
NC_000005.9:g.14716889_14716891del , CM000667.1:g.14716889_14716891del	GRCh37
NC_000005.8:g.14769889_14769891del	NCBI36
NG_008273.1:g.160001_160003del
NG_008273.2:g.160008_160010del
NG_051625.1:g.60987_60989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1069_1071del MANE Select	ENSP00000284268.6:p.Ile357del
ENST00000284268.6:c.1069_1071del	ENSP00000284268.6:p.Ile357del
ENST00000502585.1:n.311_313del
NM_054027.4:c.1069_1071del	NP_473368.1:p.Ile357del
NM_054027.5:c.1069_1071del	NP_473368.1:p.Ile357del
XM_017009644.2:c.985_987del	XP_016865133.1:p.Ile329del
NM_054027.6:c.1069_1071del MANE Select	NP_473368.1:p.Ile357del