Canonical Allele Identifier: CA2662829156
Gene: FASTKD2 HGNC NCBI

Linked Data

gnomAD v4: 2-206767351-ATGAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767352_206767355del , CM000664.2:g.206767352_206767355del GRCh38
NC_000002.11:g.207632076_207632079del , CM000664.1:g.207632076_207632079del GRCh37
NC_000002.10:g.207340321_207340324del NCBI36
NG_008984.1:g.6965_6968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.659_662del MANE Select ENSP00000385990.3:p.Met220ArgfsTer19
ENST00000236980.10:c.659_662del ENSP00000236980.6:p.Met220ArgfsTer19
ENST00000402774.7:c.659_662del ENSP00000385990.3:p.Met220ArgfsTer19
ENST00000403094.3:c.659_662del ENSP00000384929.3:p.Met220ArgfsTer19
ENST00000487777.5:n.717_720del
NM_001136193.1:c.659_662del NP_001129665.1:p.Met220ArgfsTer19
NM_001136194.1:c.659_662del NP_001129666.1:p.Met220ArgfsTer19
NM_014929.3:c.659_662del NP_055744.2:p.Met220ArgfsTer19
NM_001136193.2:c.659_662del MANE Select NP_001129665.1:p.Met220ArgfsTer19
NM_001136194.2:c.659_662del NP_001129666.1:p.Met220ArgfsTer19
NM_014929.4:c.659_662del NP_055744.2:p.Met220ArgfsTer19
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