Canonical Allele Identifier: CA2673310559

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716895-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716895_14716896insT , CM000667.2:g.14716895_14716896insT	GRCh38
NC_000005.9:g.14717004_14717005insT , CM000667.1:g.14717004_14717005insT	GRCh37
NC_000005.8:g.14770004_14770005insT	NCBI36
NG_008273.1:g.159883_159884insA
NG_008273.2:g.159890_159891insA
NG_051625.1:g.61102_61103insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-61_1012-60insA MANE Select	ENSP00000284268.6:n.1012-61_1012-60insA
ENST00000284268.6:c.1012-61_1012-60insA	ENSP00000284268.6:n.1012-61_1012-60insA
ENST00000502585.1:n.193_194insA
NM_054027.4:c.1012-61_1012-60insA	NP_473368.1:n.1012-61_1012-60insA
NM_054027.5:c.1012-61_1012-60insA	NP_473368.1:n.1012-61_1012-60insA
XM_017009644.2:c.928-61_928-60insA	XP_016865133.1:n.928-61_928-60insA
NM_054027.6:c.1012-61_1012-60insA MANE Select	NP_473368.1:n.1012-61_1012-60insA