Canonical Allele Identifier: CA2673314831

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871572-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871574_14871575del , CM000667.2:g.14871574_14871575del	GRCh38
NC_000005.9:g.14871683_14871684del , CM000667.1:g.14871683_14871684del	GRCh37
NC_000005.8:g.14924683_14924684del	NCBI36
NG_008273.1:g.5205_5206del
NG_008273.2:g.5212_5213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-127_-126del MANE Select	ENSP00000284268.6:n.-127_-126del
ENST00000284268.6:c.-127_-126del	ENSP00000284268.6:n.-127_-126del
ENST00000505140.1:c.-127_-126del	ENSP00000426332.1:n.-127_-126del
NM_054027.4:c.-127_-126del	NP_473368.1:n.-127_-126del
XM_011514067.1:c.-127_-126del	XP_011512369.1:n.-127_-126del
NM_054027.5:c.-127_-126del	NP_473368.1:n.-127_-126del
NM_054027.6:c.-127_-126del MANE Select	NP_473368.1:n.-127_-126del