Canonical Allele Identifier: CA557887458

Gene: ANKH

Linked Data

• dbSNP Id: rs1281798209
• gnomAD v2: 5-14716677-CTAA-C
• gnomAD v3: 5-14716568-CTAA-C
• gnomAD v4: 5-14716568-CTAA-C
• MyVariant Identifiers: chr5:g.14716678_14716680del (hg19) ; chr5:g.14716569_14716571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716570_14716572del , CM000667.2:g.14716570_14716572del	GRCh38
NC_000005.9:g.14716679_14716681del , CM000667.1:g.14716679_14716681del	GRCh37
NC_000005.8:g.14769679_14769681del	NCBI36
NG_008273.1:g.160208_160210del
NG_008273.2:g.160215_160217del
NG_051625.1:g.60777_60779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+135_1141+137del MANE Select	ENSP00000284268.6:n.1141+135_1141+137del
ENST00000284268.6:c.1141+135_1141+137del	ENSP00000284268.6:n.1141+135_1141+137del
ENST00000502585.1:n.383+135_383+137del
NM_054027.4:c.1141+135_1141+137del	NP_473368.1:n.1141+135_1141+137del
NM_054027.5:c.1141+135_1141+137del	NP_473368.1:n.1141+135_1141+137del
XM_017009644.2:c.1057+135_1057+137del	XP_016865133.1:n.1057+135_1057+137del
NM_054027.6:c.1141+135_1141+137del MANE Select	NP_473368.1:n.1141+135_1141+137del