Canonical Allele Identifier: CA2499216775
Community Standard Title: NM_017875.4(SLC25A38):c.809dup (p.Phe271LeufsTer24)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39396414dup , CM000665.2:g.39396414dup GRCh38
NC_000003.11:g.39437905dup , CM000665.1:g.39437905dup GRCh37
NC_000003.10:g.39412909dup NCBI36
NG_016931.1:g.18091dup

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.809dup MANE Select NP_060345.2:p.Phe271LeufsTer24
ENST00000650617.1:c.809dup MANE Select ENSP00000497532.1:p.Phe271LeufsTer24
NM_001354798.1:c.642dup NP_001341727.1:p.Leu215AlafsTer15
NM_001354798.2:c.642dup NP_001341727.1:p.Leu215AlafsTer15
NM_017875.2:c.809dup NP_060345.2:p.Phe271LeufsTer24
ENST00000273158.8:c.809dup ENSP00000273158.3:p.Phe271LeufsTer24
ENST00000643672.1:c.758dup ENSP00000494532.1:p.Phe254LeufsTer24
ENST00000645280.1:c.755dup ENSP00000496690.1:p.Phe253LeufsTer24
ENST00000648579.1:c.*106dup ENSP00000497638.1:n.*106dup
XM_006713214.1:c.797dup XP_006713277.1:p.Phe267LeufsTer24
XM_006713214.2:c.797dup XP_006713277.1:p.Phe267LeufsTer24
XM_011533869.1:c.791dup XP_011532171.1:p.Phe265LeufsTer24
XM_011533869.2:c.791dup XP_011532171.1:p.Phe265LeufsTer24
XM_011533870.1:c.758dup XP_011532172.1:p.Phe254LeufsTer24
XM_011533871.1:c.629dup XP_011532173.1:p.Phe211LeufsTer24
XM_024453611.1:c.755dup XP_024309379.1:p.Phe253LeufsTer24