Canonical Allele Identifier: CA917419697
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1580130535

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871561_14871563del , CM000667.2:g.14871561_14871563del GRCh38
NC_000005.9:g.14871670_14871672del , CM000667.1:g.14871670_14871672del GRCh37
NC_000005.8:g.14924670_14924672del NCBI36
NG_008273.1:g.5216_5218del
NG_008273.2:g.5223_5225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-116_-114del MANE Select ENSP00000284268.6:n.-116_-114del
ENST00000284268.6:c.-116_-114del ENSP00000284268.6:n.-116_-114del
ENST00000505140.1:c.-116_-114del ENSP00000426332.1:n.-116_-114del
NM_054027.4:c.-116_-114del NP_473368.1:n.-116_-114del
XM_011514067.1:c.-116_-114del XP_011512369.1:n.-116_-114del
NM_054027.5:c.-116_-114del NP_473368.1:n.-116_-114del
NM_054027.6:c.-116_-114del MANE Select NP_473368.1:n.-116_-114del