Canonical Allele Identifier: CA2753593828
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563950_189563951insA , CM000664.2:g.189563950_189563951insA GRCh38
NC_000002.11:g.190428676_190428677insA , CM000664.1:g.190428676_190428677insA GRCh37
NC_000002.10:g.190136921_190136922insA NCBI36
NG_009027.1:g.21861_21862insT , LRG_837:g.21861_21862insT

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.1035_1036insT MANE Select ENSP00000261024.3:p.Met346TyrfsTer?
ENST00000261024.6:c.1035_1036insT ENSP00000261024.2:p.Met346TyrfsTer?
NM_014585.5:c.1035_1036insT , LRG_837t1:c.1035_1036insT NP_055400.1:p.Met346TyrfsTer?
XM_005246505.1:c.915_916insT XP_005246562.1:p.Met306TyrfsTer?
XM_005246505.2:c.915_916insT XP_005246562.1:p.Met306TyrfsTer?
XM_017003938.2:c.915_916insT XP_016859427.1:p.Met306TyrfsTer?
NM_014585.6:c.1035_1036insT MANE Select NP_055400.1:p.Met346TyrfsTer?