Canonical Allele Identifier: CA2673314643

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871312-G-GGCAGGGCGAGCGGGCGTGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871315_14871336dup , CM000667.2:g.14871315_14871336dup	GRCh38
NC_000005.9:g.14871424_14871445dup , CM000667.1:g.14871424_14871445dup	GRCh37
NC_000005.8:g.14924424_14924445dup	NCBI36
NG_008273.1:g.5445_5466dup
NG_008273.2:g.5452_5473dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.96+18_96+39dup MANE Select	ENSP00000284268.6:n.96+18_96+39dup
ENST00000284268.6:c.96+18_96+39dup	ENSP00000284268.6:n.96+18_96+39dup
ENST00000505140.1:c.114_135dup	ENSP00000426332.1:p.Leu46AlafsTer30
ENST00000513115.1:n.121+18_121+39dup
NM_054027.4:c.96+18_96+39dup	NP_473368.1:n.96+18_96+39dup
XM_011514067.1:c.96+18_96+39dup	XP_011512369.1:n.96+18_96+39dup
NM_054027.5:c.96+18_96+39dup	NP_473368.1:n.96+18_96+39dup
NM_054027.6:c.96+18_96+39dup MANE Select	NP_473368.1:n.96+18_96+39dup