Canonical Allele Identifier: CA2662829157
Gene: FASTKD2 HGNC NCBI

Linked Data

gnomAD v4: 2-206767360-GAAGCCAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767361_206767367del , CM000664.2:g.206767361_206767367del GRCh38
NC_000002.11:g.207632085_207632091del , CM000664.1:g.207632085_207632091del GRCh37
NC_000002.10:g.207340330_207340336del NCBI36
NG_008984.1:g.6974_6980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.668_674del MANE Select ENSP00000385990.3:p.Glu223GlyfsTer15
ENST00000236980.10:c.668_674del ENSP00000236980.6:p.Glu223GlyfsTer15
ENST00000402774.7:c.668_674del ENSP00000385990.3:p.Glu223GlyfsTer15
ENST00000403094.3:c.668_674del ENSP00000384929.3:p.Glu223GlyfsTer15
ENST00000487777.5:n.726_732del
NM_001136193.1:c.668_674del NP_001129665.1:p.Glu223GlyfsTer15
NM_001136194.1:c.668_674del NP_001129666.1:p.Glu223GlyfsTer15
NM_014929.3:c.668_674del NP_055744.2:p.Glu223GlyfsTer15
NM_001136193.2:c.668_674del MANE Select NP_001129665.1:p.Glu223GlyfsTer15
NM_001136194.2:c.668_674del NP_001129666.1:p.Glu223GlyfsTer15
NM_014929.4:c.668_674del NP_055744.2:p.Glu223GlyfsTer15
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