Canonical Allele Identifier: CA2662329119

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189565603-GAGAGGCAGGTGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565614_189565626del , CM000664.2:g.189565614_189565626del	GRCh38
NC_000002.11:g.190430340_190430352del , CM000664.1:g.190430340_190430352del	GRCh37
NC_000002.10:g.190138585_190138597del	NCBI36
NG_009027.1:g.20196_20208del , LRG_837:g.20196_20208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.515-17_515-5del MANE Select	ENSP00000261024.3:n.515-17_515-5del
ENST00000261024.6:c.515-17_515-5del	ENSP00000261024.2:n.515-17_515-5del
ENST00000427241.5:c.515-17_515-5del	ENSP00000390005.1:n.515-17_515-5del
NM_014585.5:c.515-17_515-5del , LRG_837t1:c.515-17_515-5del	NP_055400.1:n.515-17_515-5del
XM_005246505.1:c.395-17_395-5del	XP_005246562.1:n.395-17_395-5del
XM_005246505.2:c.395-17_395-5del	XP_005246562.1:n.395-17_395-5del
XM_017003938.2:c.395-17_395-5del	XP_016859427.1:n.395-17_395-5del
NM_014585.6:c.515-17_515-5del MANE Select	NP_055400.1:n.515-17_515-5del