Canonical Allele Identifier: CA1528949159
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1735827232

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871534_14871542del , CM000667.2:g.14871534_14871542del GRCh38
NC_000005.9:g.14871643_14871651del , CM000667.1:g.14871643_14871651del GRCh37
NC_000005.8:g.14924643_14924651del NCBI36
NG_008273.1:g.5244_5252del
NG_008273.2:g.5251_5259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-88_-80del MANE Select ENSP00000284268.6:n.-88_-80del
ENST00000284268.6:c.-88_-80del ENSP00000284268.6:n.-88_-80del
ENST00000505140.1:c.-88_-80del ENSP00000426332.1:n.-88_-80del
NM_054027.4:c.-88_-80del NP_473368.1:n.-88_-80del
XM_011514067.1:c.-88_-80del XP_011512369.1:n.-88_-80del
NM_054027.5:c.-88_-80del NP_473368.1:n.-88_-80del
NM_054027.6:c.-88_-80del MANE Select NP_473368.1:n.-88_-80del