Canonical Allele Identifier: CA2673314749

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871518-A-AGCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871518_14871519insGCGC , CM000667.2:g.14871518_14871519insGCGC	GRCh38
NC_000005.9:g.14871627_14871628insGCGC , CM000667.1:g.14871627_14871628insGCGC	GRCh37
NC_000005.8:g.14924627_14924628insGCGC	NCBI36
NG_008273.1:g.5260_5261insGCGC
NG_008273.2:g.5267_5268insGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-72_-71insGCGC MANE Select	ENSP00000284268.6:n.-72_-71insGCGC
ENST00000284268.6:c.-72_-71insGCGC	ENSP00000284268.6:n.-72_-71insGCGC
ENST00000505140.1:c.-72_-71insGCGC	ENSP00000426332.1:n.-72_-71insGCGC
NM_054027.4:c.-72_-71insGCGC	NP_473368.1:n.-72_-71insGCGC
XM_011514067.1:c.-72_-71insGCGC	XP_011512369.1:n.-72_-71insGCGC
NM_054027.5:c.-72_-71insGCGC	NP_473368.1:n.-72_-71insGCGC
NM_054027.6:c.-72_-71insGCGC MANE Select	NP_473368.1:n.-72_-71insGCGC