Canonical Allele Identifier: CA1323320543
Gene: FASTKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767265_206767280delinsTTGCCAAAAGACTGTC , CM000664.2:g.206767265_206767280delinsTTGCCAAAAGACTGTC GRCh38
NC_000002.11:g.207631989_207632004delinsTTGCCAAAAGACTGTC , CM000664.1:g.207631989_207632004delinsTTGCCAAAAGACTGTC GRCh37
NC_000002.10:g.207340234_207340249delinsTTGCCAAAAGACTGTC NCBI36
NG_008984.1:g.6878_6893delinsTTGCCAAAAGACTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.572_587delinsTTGCCAAAAGACTGTC MANE Select ENSP00000385990.3:p.Ile191=
ENST00000236980.10:c.572_587delinsTTGCCAAAAGACTGTC ENSP00000236980.6:p.Ile191=
ENST00000402774.7:c.572_587delinsTTGCCAAAAGACTGTC ENSP00000385990.3:p.Ile191=
ENST00000403094.3:c.572_587delinsTTGCCAAAAGACTGTC ENSP00000384929.3:p.Ile191=
ENST00000487777.5:n.630_645delinsTTGCCAAAAGACTGTC
NM_001136193.1:c.572_587delinsTTGCCAAAAGACTGTC NP_001129665.1:p.Ile191=
NM_001136194.1:c.572_587delinsTTGCCAAAAGACTGTC NP_001129666.1:p.Ile191=
NM_014929.3:c.572_587delinsTTGCCAAAAGACTGTC NP_055744.2:p.Ile191=
NM_001136193.2:c.572_587delinsTTGCCAAAAGACTGTC MANE Select NP_001129665.1:p.Ile191=
NM_001136194.2:c.572_587delinsTTGCCAAAAGACTGTC NP_001129666.1:p.Ile191=
NM_014929.4:c.572_587delinsTTGCCAAAAGACTGTC NP_055744.2:p.Ile191=