Canonical Allele Identifier: CA542617033
Community Standard Title: NM_017875.4(SLC25A38):c.336_346del (p.Lys112AsnfsTer?)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39391500_39391510del , CM000665.2:g.39391500_39391510del GRCh38
NC_000003.11:g.39432991_39433001del , CM000665.1:g.39432991_39433001del GRCh37
NC_000003.10:g.39407995_39408005del NCBI36
NG_016931.1:g.13177_13187del

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.336_346del MANE Select NP_060345.2:p.Lys112AsnfsTer?
ENST00000650617.1:c.336_346del MANE Select ENSP00000497532.1:p.Lys112AsnfsTer?
NM_001354798.1:c.336_346del NP_001341727.1:p.Lys112AsnfsTer?
NM_001354798.2:c.336_346del NP_001341727.1:p.Lys112AsnfsTer?
NM_017875.2:c.336_346del NP_060345.2:p.Lys112AsnfsTer?
ENST00000273158.8:c.336_346del ENSP00000273158.3:p.Lys112AsnfsTer?
ENST00000431510.1:c.324_334del ENSP00000394244.1:p.Lys108AsnfsTer?
ENST00000642683.1:c.288_298del ENSP00000495376.1:p.Lys96AsnfsTer?
ENST00000642978.1:c.318_328del ENSP00000494342.1:p.Lys106=
ENST00000643672.1:c.285_295del ENSP00000494532.1:p.Lys95AsnfsTer?
ENST00000645280.1:c.282_292del ENSP00000496690.1:p.Lys94AsnfsTer?
ENST00000645630.1:c.277-353_277-343del ENSP00000493714.1:n.277-353_277-343del
ENST00000648579.1:c.336_346del ENSP00000497638.1:p.Lys112AsnfsTer?
XM_006713214.1:c.324_334del XP_006713277.1:p.Lys108AsnfsTer?
XM_006713214.2:c.324_334del XP_006713277.1:p.Lys108AsnfsTer?
XM_011533869.1:c.318_328del XP_011532171.1:p.Lys106AsnfsTer?
XM_011533869.2:c.318_328del XP_011532171.1:p.Lys106AsnfsTer?
XM_011533870.1:c.285_295del XP_011532172.1:p.Lys95AsnfsTer?
XM_011533871.1:c.277-353_277-343del XP_011532173.1:n.277-353_277-343del
XM_024453611.1:c.282_292del XP_024309379.1:p.Lys94AsnfsTer?