Canonical Allele Identifier: CA2547293378
Gene: SLC40A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564216_189564217insACT , CM000664.2:g.189564216_189564217insACT GRCh38
NC_000002.11:g.190428942_190428943insACT , CM000664.1:g.190428942_190428943insACT GRCh37
NC_000002.10:g.190137187_190137188insACT NCBI36
NG_009027.1:g.21595_21596insAGT , LRG_837:g.21595_21596insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.769_770insAGT MANE Select ENSP00000261024.3:p.Pro257delinsGlnSer
ENST00000261024.6:c.769_770insAGT ENSP00000261024.2:p.Pro257delinsGlnSer
NM_014585.5:c.769_770insAGT , LRG_837t1:c.769_770insAGT NP_055400.1:p.Pro257delinsGlnSer
XM_005246505.1:c.649_650insAGT XP_005246562.1:p.Pro217delinsGlnSer
XM_005246505.2:c.649_650insAGT XP_005246562.1:p.Pro217delinsGlnSer
XM_017003938.2:c.649_650insAGT XP_016859427.1:p.Pro217delinsGlnSer
NM_014585.6:c.769_770insAGT MANE Select NP_055400.1:p.Pro257delinsGlnSer
Search 100 bp 5'
Search 100 bp 3'