Canonical Allele Identifier: CA2662329092

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189575299-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575302dup , CM000664.2:g.189575302dup	GRCh38
NC_000002.11:g.190440028dup , CM000664.1:g.190440028dup	GRCh37
NC_000002.10:g.190148273dup	NCBI36
NG_009027.1:g.10512dup , LRG_837:g.10512dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.132dup MANE Select	ENSP00000261024.3:p.Ala45CysfsTer?
ENST00000261024.6:c.132dup	ENSP00000261024.2:p.Ala45CysfsTer?
ENST00000418714.1:n.573dup
ENST00000427241.5:c.132dup	ENSP00000390005.1:p.Ala45CysfsTer?
ENST00000455320.5:c.132dup	ENSP00000413549.1:p.Ala45CysfsTer?
ENST00000479598.5:n.413dup
NM_014585.5:c.132dup , LRG_837t1:c.132dup	NP_055400.1:p.Ala45CysfsTer?
XM_005246505.1:c.12dup	XP_005246562.1:p.Ala5CysfsTer?
XM_005246505.2:c.12dup	XP_005246562.1:p.Ala5CysfsTer?
XM_017003938.2:c.12dup	XP_016859427.1:p.Ala5CysfsTer?
NM_014585.6:c.132dup MANE Select	NP_055400.1:p.Ala45CysfsTer?