Canonical Allele Identifier: CA2542067699
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575175_189575176dup , CM000664.2:g.189575175_189575176dup GRCh38
NC_000002.11:g.190439901_190439902dup , CM000664.1:g.190439901_190439902dup GRCh37
NC_000002.10:g.190148146_190148147dup NCBI36
NG_009027.1:g.10636_10637dup , LRG_837:g.10636_10637dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.256_257dup MANE Select ENSP00000261024.3:p.Asn86LysfsTer26
ENST00000261024.6:c.256_257dup ENSP00000261024.2:p.Asn86LysfsTer26
ENST00000418714.1:n.697_698dup
ENST00000427241.5:c.256_257dup ENSP00000390005.1:p.Asn86LysfsTer26
ENST00000479598.5:n.537_538dup
NM_014585.5:c.256_257dup , LRG_837t1:c.256_257dup NP_055400.1:p.Asn86LysfsTer26
XM_005246505.1:c.136_137dup XP_005246562.1:p.Asn46LysfsTer26
XM_005246505.2:c.136_137dup XP_005246562.1:p.Asn46LysfsTer26
XM_017003938.2:c.136_137dup XP_016859427.1:p.Asn46LysfsTer26
NM_014585.6:c.256_257dup MANE Select NP_055400.1:p.Asn86LysfsTer26