Canonical Allele Identifier: CA2673314872

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871600-TCGCGGCTGCGGCGCCTTCTCCGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871610_14871633del , CM000667.2:g.14871610_14871633del	GRCh38
NC_000005.9:g.14871719_14871742del , CM000667.1:g.14871719_14871742del	GRCh37
NC_000005.8:g.14924719_14924742del	NCBI36
NG_008273.1:g.5155_5178del
NG_008273.2:g.5162_5185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-177_-154del MANE Select	ENSP00000284268.6:n.-177_-154del
ENST00000284268.6:c.-177_-154del	ENSP00000284268.6:n.-177_-154del
ENST00000505140.1:c.-177_-154del	ENSP00000426332.1:n.-177_-154del
NM_054027.4:c.-177_-154del	NP_473368.1:n.-177_-154del
XM_011514067.1:c.-177_-154del	XP_011512369.1:n.-177_-154del
NM_054027.5:c.-177_-154del	NP_473368.1:n.-177_-154del
NM_054027.6:c.-177_-154del MANE Select	NP_473368.1:n.-177_-154del