Canonical Allele Identifier: CA2673314726

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871511-AGGGGCGACGGGGCGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871519_14871534del , CM000667.2:g.14871519_14871534del	GRCh38
NC_000005.9:g.14871628_14871643del , CM000667.1:g.14871628_14871643del	GRCh37
NC_000005.8:g.14924628_14924643del	NCBI36
NG_008273.1:g.5252_5267del
NG_008273.2:g.5259_5274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-80_-65del MANE Select	ENSP00000284268.6:n.-80_-65del
ENST00000284268.6:c.-80_-65del	ENSP00000284268.6:n.-80_-65del
ENST00000505140.1:c.-80_-65del	ENSP00000426332.1:n.-80_-65del
NM_054027.4:c.-80_-65del	NP_473368.1:n.-80_-65del
XM_011514067.1:c.-80_-65del	XP_011512369.1:n.-80_-65del
NM_054027.5:c.-80_-65del	NP_473368.1:n.-80_-65del
NM_054027.6:c.-80_-65del MANE Select	NP_473368.1:n.-80_-65del