Canonical Allele Identifier: CA2673314656

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871336-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871340del , CM000667.2:g.14871340del	GRCh38
NC_000005.9:g.14871449del , CM000667.1:g.14871449del	GRCh37
NC_000005.8:g.14924449del	NCBI36
NG_008273.1:g.5442del
NG_008273.2:g.5449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.96+15del MANE Select	ENSP00000284268.6:n.96+15del
ENST00000284268.6:c.96+15del	ENSP00000284268.6:n.96+15del
ENST00000505140.1:c.111del	ENSP00000426332.1:p.Ala38ArgfsTer?
ENST00000513115.1:n.121+15del
NM_054027.4:c.96+15del	NP_473368.1:n.96+15del
XM_011514067.1:c.96+15del	XP_011512369.1:n.96+15del
NM_054027.5:c.96+15del	NP_473368.1:n.96+15del
NM_054027.6:c.96+15del MANE Select	NP_473368.1:n.96+15del