Canonical Allele Identifier: CA1528880872

Gene: ANKH

Linked Data

• dbSNP Id: rs1737488183
• gnomAD v4: 5-14716925-TACGAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716927_14716933del , CM000667.2:g.14716927_14716933del	GRCh38
NC_000005.9:g.14717036_14717042del , CM000667.1:g.14717036_14717042del	GRCh37
NC_000005.8:g.14770036_14770042del	NCBI36
NG_008273.1:g.159847_159853del
NG_008273.2:g.159854_159860del
NG_051625.1:g.61134_61140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-97_1012-91del MANE Select	ENSP00000284268.6:n.1012-97_1012-91del
ENST00000284268.6:c.1012-97_1012-91del	ENSP00000284268.6:n.1012-97_1012-91del
ENST00000502585.1:n.157_163del
NM_054027.4:c.1012-97_1012-91del	NP_473368.1:n.1012-97_1012-91del
NM_054027.5:c.1012-97_1012-91del	NP_473368.1:n.1012-97_1012-91del
XM_017009644.2:c.928-97_928-91del	XP_016865133.1:n.928-97_928-91del
NM_054027.6:c.1012-97_1012-91del MANE Select	NP_473368.1:n.1012-97_1012-91del