Canonical Allele Identifier: CA1358939318

Gene: SLC25A38

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394532_39394533delinsCT , CM000665.2:g.39394532_39394533delinsCT	GRCh38
NC_000003.11:g.39436023_39436024delinsCT , CM000665.1:g.39436023_39436024delinsCT	GRCh37
NC_000003.10:g.39411027_39411028delinsCT	NCBI36
NG_016931.1:g.16209_16210delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.700_701delinsCT	ENSP00000495376.1:p.Leu234=
ENST00000643672.1:c.697_698delinsCT	ENSP00000494532.1:p.Leu233=
ENST00000645280.1:c.694_695delinsCT	ENSP00000496690.1:p.Leu232=
ENST00000648579.1:c.*45_*46delinsCT	ENSP00000497638.1:n.*45_*46delinsCT
ENST00000650617.1:c.748_749delinsCT MANE Select	ENSP00000497532.1:p.Leu250=
ENST00000273158.8:c.748_749delinsCT	ENSP00000273158.3:p.Leu250=
NM_017875.2:c.748_749delinsCT	NP_060345.2:p.Leu250=
XM_006713214.1:c.736_737delinsCT	XP_006713277.1:p.Leu246=
XM_011533869.1:c.730_731delinsCT	XP_011532171.1:p.Leu244=
XM_011533870.1:c.697_698delinsCT	XP_011532172.1:p.Leu233=
XM_011533871.1:c.568_569delinsCT	XP_011532173.1:p.Leu190=
NM_001354798.1:c.626-1866_626-1865delinsCT	NP_001341727.1:n.626-1866_626-1865delinsCT
NM_017875.4:c.748_749delinsCT MANE Select	NP_060345.2:p.Leu250=
XM_006713214.2:c.736_737delinsCT	XP_006713277.1:p.Leu246=
XM_011533869.2:c.730_731delinsCT	XP_011532171.1:p.Leu244=
XM_024453611.1:c.694_695delinsCT	XP_024309379.1:p.Leu232=
NM_001354798.2:c.626-1866_626-1865delinsCT	NP_001341727.1:n.626-1866_626-1865delinsCT