Canonical Allele Identifier: CA558016022

Gene: ANKH

Linked Data

• dbSNP Id: rs1299234154
• gnomAD v2: 5-14871633-CGA-C
• gnomAD v3: 5-14871524-CGA-C
• gnomAD v4: 5-14871524-CGA-C
• MyVariant Identifiers: chr5:g.14871634_14871635del (hg19) ; chr5:g.14871525_14871526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871525_14871526del , CM000667.2:g.14871525_14871526del	GRCh38
NC_000005.9:g.14871634_14871635del , CM000667.1:g.14871634_14871635del	GRCh37
NC_000005.8:g.14924634_14924635del	NCBI36
NG_008273.1:g.5253_5254del
NG_008273.2:g.5260_5261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-79_-78del MANE Select	ENSP00000284268.6:n.-79_-78del
ENST00000284268.6:c.-79_-78del	ENSP00000284268.6:n.-79_-78del
ENST00000505140.1:c.-79_-78del	ENSP00000426332.1:n.-79_-78del
NM_054027.4:c.-79_-78del	NP_473368.1:n.-79_-78del
XM_011514067.1:c.-79_-78del	XP_011512369.1:n.-79_-78del
NM_054027.5:c.-79_-78del	NP_473368.1:n.-79_-78del
NM_054027.6:c.-79_-78del MANE Select	NP_473368.1:n.-79_-78del