Canonical Allele Identifier: CA2662829152
Gene: FASTKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767318_206767320del , CM000664.2:g.206767318_206767320del GRCh38
NC_000002.11:g.207632042_207632044del , CM000664.1:g.207632042_207632044del GRCh37
NC_000002.10:g.207340287_207340289del NCBI36
NG_008984.1:g.6931_6933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.625_627del MANE Select ENSP00000385990.3:p.Ser209del
ENST00000236980.10:c.625_627del ENSP00000236980.6:p.Ser209del
ENST00000402774.7:c.625_627del ENSP00000385990.3:p.Ser209del
ENST00000403094.3:c.625_627del ENSP00000384929.3:p.Ser209del
ENST00000487777.5:n.683_685del
NM_001136193.1:c.625_627del NP_001129665.1:p.Ser209del
NM_001136194.1:c.625_627del NP_001129666.1:p.Ser209del
NM_014929.3:c.625_627del NP_055744.2:p.Ser209del
NM_001136193.2:c.625_627del MANE Select NP_001129665.1:p.Ser209del
NM_001136194.2:c.625_627del NP_001129666.1:p.Ser209del
NM_014929.4:c.625_627del NP_055744.2:p.Ser209del