Canonical Allele Identifier: CA10581909

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 240919
• ClinVar RCV Id: RCV000228507
• dbSNP Id: rs878854984
• MyVariant Identifiers: chr2:g.190436468_190436470dupCAA (hg19) ; chr2:g.190436467_190436468insCAA (hg19) ; chr2:g.189571742_189571744dupCAA (hg38) ; chr2:g.189571741_189571742insCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571751_189571753dup , CM000664.2:g.189571751_189571753dup	GRCh38
NC_000002.11:g.190436477_190436479dup , CM000664.1:g.190436477_190436479dup	GRCh37
NC_000002.10:g.190144722_190144724dup	NCBI36
NG_009027.1:g.14068_14070dup , LRG_837:g.14068_14070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.485_487dup MANE Select	ENSP00000261024.3:p.Val162_Ala163insVal
ENST00000261024.6:c.485_487dup	ENSP00000261024.2:p.Val162_Ala163insVal
ENST00000427241.5:c.485_487dup	ENSP00000390005.1:p.Val162_Ala163insVal
NM_014585.5:c.485_487dup , LRG_837t1:c.485_487dup	NP_055400.1:p.Val162_Ala163insVal
XM_005246505.1:c.365_367dup	XP_005246562.1:p.Val122_Ala123insVal
XM_005246505.2:c.365_367dup	XP_005246562.1:p.Val122_Ala123insVal
XM_017003938.2:c.365_367dup	XP_016859427.1:p.Val122_Ala123insVal
NM_014585.6:c.485_487dup MANE Select	NP_055400.1:p.Val162_Ala163insVal