Canonical Allele Identifier: CA1528949207
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1735830751

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871573_14871579del , CM000667.2:g.14871573_14871579del GRCh38
NC_000005.9:g.14871682_14871688del , CM000667.1:g.14871682_14871688del GRCh37
NC_000005.8:g.14924682_14924688del NCBI36
NG_008273.1:g.5204_5210del
NG_008273.2:g.5211_5217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-128_-122del MANE Select ENSP00000284268.6:n.-128_-122del
ENST00000284268.6:c.-128_-122del ENSP00000284268.6:n.-128_-122del
ENST00000505140.1:c.-128_-122del ENSP00000426332.1:n.-128_-122del
NM_054027.4:c.-128_-122del NP_473368.1:n.-128_-122del
XM_011514067.1:c.-128_-122del XP_011512369.1:n.-128_-122del
NM_054027.5:c.-128_-122del NP_473368.1:n.-128_-122del
NM_054027.6:c.-128_-122del MANE Select NP_473368.1:n.-128_-122del