Canonical Allele Identifier: CA1315653785

Gene: SLC40A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575286_189575288delinsAAC , CM000664.2:g.189575286_189575288delinsAAC	GRCh38
NC_000002.11:g.190440012_190440014delinsAAC , CM000664.1:g.190440012_190440014delinsAAC	GRCh37
NC_000002.10:g.190148257_190148259delinsAAC	NCBI36
NG_009027.1:g.10524_10526delinsGTT , LRG_837:g.10524_10526delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.144_146delinsGTT MANE Select	ENSP00000261024.3:p.Val48=
ENST00000261024.6:c.144_146delinsGTT	ENSP00000261024.2:p.Val48=
ENST00000418714.1:n.585_587delinsGTT
ENST00000427241.5:c.144_146delinsGTT	ENSP00000390005.1:p.Val48=
ENST00000455320.5:c.144_146delinsGTT	ENSP00000413549.1:p.Val48=
ENST00000479598.5:n.425_427delinsGTT
NM_014585.5:c.144_146delinsGTT , LRG_837t1:c.144_146delinsGTT	NP_055400.1:p.Val48=
XM_005246505.1:c.24_26delinsGTT	XP_005246562.1:p.Val8=
XM_005246505.2:c.24_26delinsGTT	XP_005246562.1:p.Val8=
XM_017003938.2:c.24_26delinsGTT	XP_016859427.1:p.Val8=
NM_014585.6:c.144_146delinsGTT MANE Select	NP_055400.1:p.Val48=