Canonical Allele Identifier: CA2697550103
Community Standard Title: NM_030780.5(SLC25A32):c.798_808dup (p.Trp270SerfsTer21)
Gene: SLC25A32 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.103401522_103401532dup , CM000670.2:g.103401522_103401532dup GRCh38
NC_000008.10:g.104413750_104413760dup , CM000670.1:g.104413750_104413760dup GRCh37
NC_000008.9:g.104482926_104482936dup NCBI36
NG_047200.1:g.18806_18816dup

Transcript Alleles

HGVS Amino-acid Change
NM_030780.5:c.798_808dup MANE Select NP_110407.2:p.Trp270SerfsTer21
ENST00000297578.9:c.798_808dup MANE Select ENSP00000297578.4:p.Trp270SerfsTer21
NM_030780.4:c.798_808dup NP_110407.2:p.Trp270SerfsTer21
NR_102337.1:n.1110_1120dup
NR_102337.2:n.882_892dup
NR_102338.1:n.1305_1315dup
NR_102338.2:n.1077_1087dup
ENST00000297578.8:c.798_808dup ENSP00000297578.4:p.Trp270SerfsTer21
ENST00000521645.5:c.*187_*197dup ENSP00000430989.1:n.*187_*197dup
ENST00000523256.6:c.*179_*189dup ENSP00000427737.1:n.*179_*189dup
ENST00000523701.1:n.895_905dup
ENST00000523866.1:c.*340_*350dup ENSP00000430371.1:n.*340_*350dup
ENST00000649416.1:c.645_655dup ENSP00000496817.1:p.Trp219SerfsTer21
ENST00000707124.1:c.867_877dup ENSP00000516752.1:p.Trp293SerfsTer21