Canonical Allele Identifier: CA805272829

Gene: ANKH

Linked Data

• dbSNP Id: rs1194668748
• gnomAD v3: 5-14716891-GAGC-G
• gnomAD v4: 5-14716891-GAGC-G
• MyVariant Identifiers: chr5:g.14717001_14717003del (hg19) ; chr5:g.14716892_14716894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716894_14716896del , CM000667.2:g.14716894_14716896del	GRCh38
NC_000005.9:g.14717003_14717005del , CM000667.1:g.14717003_14717005del	GRCh37
NC_000005.8:g.14770003_14770005del	NCBI36
NG_008273.1:g.159885_159887del
NG_008273.2:g.159892_159894del
NG_051625.1:g.61101_61103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-59_1012-57del MANE Select	ENSP00000284268.6:n.1012-59_1012-57del
ENST00000284268.6:c.1012-59_1012-57del	ENSP00000284268.6:n.1012-59_1012-57del
ENST00000502585.1:n.195_197del
NM_054027.4:c.1012-59_1012-57del	NP_473368.1:n.1012-59_1012-57del
NM_054027.5:c.1012-59_1012-57del	NP_473368.1:n.1012-59_1012-57del
XM_017009644.2:c.928-59_928-57del	XP_016865133.1:n.928-59_928-57del
NM_054027.6:c.1012-59_1012-57del MANE Select	NP_473368.1:n.1012-59_1012-57del