Canonical Allele Identifier: CA2673314736

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871516-CGACGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871517_14871523del , CM000667.2:g.14871517_14871523del	GRCh38
NC_000005.9:g.14871626_14871632del , CM000667.1:g.14871626_14871632del	GRCh37
NC_000005.8:g.14924626_14924632del	NCBI36
NG_008273.1:g.5256_5262del
NG_008273.2:g.5263_5269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-76_-70del MANE Select	ENSP00000284268.6:n.-76_-70del
ENST00000284268.6:c.-76_-70del	ENSP00000284268.6:n.-76_-70del
ENST00000505140.1:c.-76_-70del	ENSP00000426332.1:n.-76_-70del
NM_054027.4:c.-76_-70del	NP_473368.1:n.-76_-70del
XM_011514067.1:c.-76_-70del	XP_011512369.1:n.-76_-70del
NM_054027.5:c.-76_-70del	NP_473368.1:n.-76_-70del
NM_054027.6:c.-76_-70del MANE Select	NP_473368.1:n.-76_-70del