Canonical Allele Identifier: CA2662829155
Gene: FASTKD2 HGNC NCBI

Linked Data

gnomAD v4: 2-206767338-GCTCTGTGAACA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767339_206767349del , CM000664.2:g.206767339_206767349del GRCh38
NC_000002.11:g.207632063_207632073del , CM000664.1:g.207632063_207632073del GRCh37
NC_000002.10:g.207340308_207340318del NCBI36
NG_008984.1:g.6952_6962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.646_656del MANE Select ENSP00000385990.3:p.Leu216TyrfsTer11
ENST00000236980.10:c.646_656del ENSP00000236980.6:p.Leu216TyrfsTer11
ENST00000402774.7:c.646_656del ENSP00000385990.3:p.Leu216TyrfsTer11
ENST00000403094.3:c.646_656del ENSP00000384929.3:p.Leu216TyrfsTer11
ENST00000487777.5:n.704_714del
NM_001136193.1:c.646_656del NP_001129665.1:p.Leu216TyrfsTer11
NM_001136194.1:c.646_656del NP_001129666.1:p.Leu216TyrfsTer11
NM_014929.3:c.646_656del NP_055744.2:p.Leu216TyrfsTer11
NM_001136193.2:c.646_656del MANE Select NP_001129665.1:p.Leu216TyrfsTer11
NM_001136194.2:c.646_656del NP_001129666.1:p.Leu216TyrfsTer11
NM_014929.4:c.646_656del NP_055744.2:p.Leu216TyrfsTer11
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