Canonical Allele Identifier: CA558016047

Gene: ANKH

Linked Data

• dbSNP Id: rs1264594310
• gnomAD v2: 5-14871671-G-GGCGGCGGGGCCTCGGGC
• gnomAD v3: 5-14871562-G-GGCGGCGGGGCCTCGGGC
• gnomAD v4: 5-14871562-G-GGCGGCGGGGCCTCGGGC
• MyVariant Identifiers: chr5:g.14871671_14871672insGCGGCGGGGCCTCGGGC (hg19) ; chr5:g.14871562_14871563insGCGGCGGGGCCTCGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871570_14871586dup , CM000667.2:g.14871570_14871586dup	GRCh38
NC_000005.9:g.14871679_14871695dup , CM000667.1:g.14871679_14871695dup	GRCh37
NC_000005.8:g.14924679_14924695dup	NCBI36
NG_008273.1:g.5200_5216dup
NG_008273.2:g.5207_5223dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-132_-116dup MANE Select	ENSP00000284268.6:n.-132_-116dup
ENST00000284268.6:c.-132_-116dup	ENSP00000284268.6:n.-132_-116dup
ENST00000505140.1:c.-132_-116dup	ENSP00000426332.1:n.-132_-116dup
NM_054027.4:c.-132_-116dup	NP_473368.1:n.-132_-116dup
XM_011514067.1:c.-132_-116dup	XP_011512369.1:n.-132_-116dup
NM_054027.5:c.-132_-116dup	NP_473368.1:n.-132_-116dup
NM_054027.6:c.-132_-116dup MANE Select	NP_473368.1:n.-132_-116dup