Canonical Allele Identifier: CA2665163036

Gene: SLC25A38

Linked Data

• gnomAD v4: 3-39394568-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394572del , CM000665.2:g.39394572del	GRCh38
NC_000003.11:g.39436063del , CM000665.1:g.39436063del	GRCh37
NC_000003.10:g.39411067del	NCBI36
NG_016931.1:g.16249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.740del	ENSP00000495376.1:p.Phe247SerfsTer?
ENST00000643672.1:c.737del	ENSP00000494532.1:p.Phe246SerfsTer22
ENST00000645280.1:c.734del	ENSP00000496690.1:p.Phe245SerfsTer22
ENST00000648579.1:c.*85del	ENSP00000497638.1:n.*85del
ENST00000650617.1:c.788del MANE Select	ENSP00000497532.1:p.Phe263SerfsTer22
ENST00000273158.8:c.788del	ENSP00000273158.3:p.Phe263SerfsTer22
NM_017875.2:c.788del	NP_060345.2:p.Phe263SerfsTer22
XM_006713214.1:c.776del	XP_006713277.1:p.Phe259SerfsTer22
XM_011533869.1:c.770del	XP_011532171.1:p.Phe257SerfsTer22
XM_011533870.1:c.737del	XP_011532172.1:p.Phe246SerfsTer22
XM_011533871.1:c.608del	XP_011532173.1:p.Phe203SerfsTer22
NM_001354798.1:c.626-1826del	NP_001341727.1:n.626-1826del
NM_017875.4:c.788del MANE Select	NP_060345.2:p.Phe263SerfsTer22
XM_006713214.2:c.776del	XP_006713277.1:p.Phe259SerfsTer22
XM_011533869.2:c.770del	XP_011532171.1:p.Phe257SerfsTer22
XM_024453611.1:c.734del	XP_024309379.1:p.Phe245SerfsTer22
NM_001354798.2:c.626-1826del	NP_001341727.1:n.626-1826del