Canonical Allele Identifier: CA913102802

Gene: SLC25A38

Linked Data

• dbSNP Id: rs2041807718
• gnomAD v4: 3-39394532-CT-C
• MyVariant Identifiers: chr3:g.39436024del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394533del , CM000665.2:g.39394533del	GRCh38
NC_000003.11:g.39436024del , CM000665.1:g.39436024del	GRCh37
NC_000003.10:g.39411028del	NCBI36
NG_016931.1:g.16210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.701del	ENSP00000495376.1:p.Leu234ArgfsTer10
ENST00000643672.1:c.698del	ENSP00000494532.1:p.Leu233ArgfsTer10
ENST00000645280.1:c.695del	ENSP00000496690.1:p.Leu232ArgfsTer10
ENST00000648579.1:c.*46del	ENSP00000497638.1:n.*46del
ENST00000650617.1:c.749del MANE Select	ENSP00000497532.1:p.Leu250ArgfsTer10
ENST00000273158.8:c.749del	ENSP00000273158.3:p.Leu250ArgfsTer10
NM_017875.2:c.749del	NP_060345.2:p.Leu250ArgfsTer10
XM_006713214.1:c.737del	XP_006713277.1:p.Leu246ArgfsTer10
XM_011533869.1:c.731del	XP_011532171.1:p.Leu244ArgfsTer10
XM_011533870.1:c.698del	XP_011532172.1:p.Leu233ArgfsTer10
XM_011533871.1:c.569del	XP_011532173.1:p.Leu190ArgfsTer10
NM_001354798.1:c.626-1865del	NP_001341727.1:n.626-1865del
NM_017875.4:c.749del MANE Select	NP_060345.2:p.Leu250ArgfsTer10
XM_006713214.2:c.737del	XP_006713277.1:p.Leu246ArgfsTer10
XM_011533869.2:c.731del	XP_011532171.1:p.Leu244ArgfsTer10
XM_024453611.1:c.695del	XP_024309379.1:p.Leu232ArgfsTer10
NM_001354798.2:c.626-1865del	NP_001341727.1:n.626-1865del