Canonical Allele Identifier: CA2673314847

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871579-C-CCGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871579_14871580insCGCGG , CM000667.2:g.14871579_14871580insCGCGG	GRCh38
NC_000005.9:g.14871688_14871689insCGCGG , CM000667.1:g.14871688_14871689insCGCGG	GRCh37
NC_000005.8:g.14924688_14924689insCGCGG	NCBI36
NG_008273.1:g.5199_5200insCCGCG
NG_008273.2:g.5206_5207insCCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-133_-132insCCGCG MANE Select	ENSP00000284268.6:n.-133_-132insCCGCG
ENST00000284268.6:c.-133_-132insCCGCG	ENSP00000284268.6:n.-133_-132insCCGCG
ENST00000505140.1:c.-133_-132insCCGCG	ENSP00000426332.1:n.-133_-132insCCGCG
NM_054027.4:c.-133_-132insCCGCG	NP_473368.1:n.-133_-132insCCGCG
XM_011514067.1:c.-133_-132insCCGCG	XP_011512369.1:n.-133_-132insCCGCG
NM_054027.5:c.-133_-132insCCGCG	NP_473368.1:n.-133_-132insCCGCG
NM_054027.6:c.-133_-132insCCGCG MANE Select	NP_473368.1:n.-133_-132insCCGCG