Canonical Allele Identifier: CA2673314805

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871556-G-GCCCCGCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871558_14871559insCCGCCGCCC , CM000667.2:g.14871558_14871559insCCGCCGCCC	GRCh38
NC_000005.9:g.14871667_14871668insCCGCCGCCC , CM000667.1:g.14871667_14871668insCCGCCGCCC	GRCh37
NC_000005.8:g.14924667_14924668insCCGCCGCCC	NCBI36
NG_008273.1:g.5222_5223insGCGGCGGGG
NG_008273.2:g.5229_5230insGCGGCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-110_-109insGCGGCGGGG MANE Select	ENSP00000284268.6:n.-110_-109insGCGGCGGGG
ENST00000284268.6:c.-110_-109insGCGGCGGGG	ENSP00000284268.6:n.-110_-109insGCGGCGGGG
ENST00000505140.1:c.-110_-109insGCGGCGGGG	ENSP00000426332.1:n.-110_-109insGCGGCGGGG
NM_054027.4:c.-110_-109insGCGGCGGGG	NP_473368.1:n.-110_-109insGCGGCGGGG
XM_011514067.1:c.-110_-109insGCGGCGGGG	XP_011512369.1:n.-110_-109insGCGGCGGGG
NM_054027.5:c.-110_-109insGCGGCGGGG	NP_473368.1:n.-110_-109insGCGGCGGGG
NM_054027.6:c.-110_-109insGCGGCGGGG MANE Select	NP_473368.1:n.-110_-109insGCGGCGGGG