Canonical Allele Identifier: CA114769846

Gene: ANKH

Linked Data

• dbSNP Id: rs1011824945
• gnomAD v2: 5-14871694-GGCGGCGGCTCCTCCTCGCGGCT-G
• gnomAD v3: 5-14871585-GGCGGCGGCTCCTCCTCGCGGCT-G
• gnomAD v4: 5-14871585-GGCGGCGGCTCCTCCTCGCGGCT-G
• MyVariant Identifiers: chr5:g.14871695_14871716del (hg19) ; chr5:g.14871586_14871607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871592_14871613del , CM000667.2:g.14871592_14871613del	GRCh38
NC_000005.9:g.14871701_14871722del , CM000667.1:g.14871701_14871722del	GRCh37
NC_000005.8:g.14924701_14924722del	NCBI36
NG_008273.1:g.5172_5193del
NG_008273.2:g.5179_5200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-160_-139del MANE Select	ENSP00000284268.6:n.-160_-139del
ENST00000284268.6:c.-160_-139del	ENSP00000284268.6:n.-160_-139del
ENST00000505140.1:c.-160_-139del	ENSP00000426332.1:n.-160_-139del
NM_054027.4:c.-160_-139del	NP_473368.1:n.-160_-139del
XM_011514067.1:c.-160_-139del	XP_011512369.1:n.-160_-139del
NM_054027.5:c.-160_-139del	NP_473368.1:n.-160_-139del
NM_054027.6:c.-160_-139del MANE Select	NP_473368.1:n.-160_-139del