Canonical Allele Identifier: CA2673314692

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871490-AGGGGACTCTGCGGGGAGGCGAGGGGCGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871495_14871523del , CM000667.2:g.14871495_14871523del	GRCh38
NC_000005.9:g.14871604_14871632del , CM000667.1:g.14871604_14871632del	GRCh37
NC_000005.8:g.14924604_14924632del	NCBI36
NG_008273.1:g.5260_5288del
NG_008273.2:g.5267_5295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-72_-44del MANE Select	ENSP00000284268.6:n.-72_-44del
ENST00000284268.6:c.-72_-44del	ENSP00000284268.6:n.-72_-44del
ENST00000505140.1:c.-72_-44del	ENSP00000426332.1:n.-72_-44del
NM_054027.4:c.-72_-44del	NP_473368.1:n.-72_-44del
XM_011514067.1:c.-72_-44del	XP_011512369.1:n.-72_-44del
NM_054027.5:c.-72_-44del	NP_473368.1:n.-72_-44del
NM_054027.6:c.-72_-44del MANE Select	NP_473368.1:n.-72_-44del