Canonical Allele Identifier: CA2499216767

Gene: SLC25A38

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39390458_39390467del , CM000665.2:g.39390458_39390467del	GRCh38
NC_000003.11:g.39431949_39431958del , CM000665.1:g.39431949_39431958del	GRCh37
NC_000003.10:g.39406953_39406962del	NCBI36
NG_016931.1:g.12135_12144del

Transcript Alleles

HGVS	Amino-acid Change
NM_017875.4:c.227_236del MANE Select	NP_060345.2:p.Lys76ThrfsTer17
ENST00000650617.1:c.227_236del MANE Select	ENSP00000497532.1:p.Lys76ThrfsTer17
NM_001354798.1:c.227_236del	NP_001341727.1:p.Lys76ThrfsTer17
NM_001354798.2:c.227_236del	NP_001341727.1:p.Lys76ThrfsTer17
NM_017875.2:c.227_236del	NP_060345.2:p.Lys76ThrfsTer17
ENST00000273158.8:c.227_236del	ENSP00000273158.3:p.Lys76ThrfsTer17
ENST00000431510.1:c.215_224del	ENSP00000394244.1:p.Lys72ThrfsTer17
ENST00000642442.1:n.288_297del
ENST00000642683.1:c.227_228+8del
ENST00000642978.1:c.209_218del	ENSP00000494342.1:p.Lys70ThrfsTer17
ENST00000643672.1:c.176_185del	ENSP00000494532.1:p.Lys59ThrfsTer17
ENST00000645280.1:c.173_182del	ENSP00000496690.1:p.Lys58ThrfsTer17
ENST00000645630.1:c.227_236del	ENSP00000493714.1:p.Lys76ThrfsTer27
ENST00000648579.1:c.227_236del	ENSP00000497638.1:p.Lys76ThrfsTer17
XM_006713214.1:c.215_224del	XP_006713277.1:p.Lys72ThrfsTer17
XM_006713214.2:c.215_224del	XP_006713277.1:p.Lys72ThrfsTer17
XM_011533869.1:c.209_218del	XP_011532171.1:p.Lys70ThrfsTer17
XM_011533869.2:c.209_218del	XP_011532171.1:p.Lys70ThrfsTer17
XM_011533870.1:c.176_185del	XP_011532172.1:p.Lys59ThrfsTer17
XM_011533871.1:c.227_236del	XP_011532173.1:p.Lys76ThrfsTer27
XM_024453611.1:c.173_182del	XP_024309379.1:p.Lys58ThrfsTer17