Canonical Allele Identifier: CA2662329350

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189571665-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571668del , CM000664.2:g.189571668del	GRCh38
NC_000002.11:g.190436394del , CM000664.1:g.190436394del	GRCh37
NC_000002.10:g.190144639del	NCBI36
NG_009027.1:g.14146del , LRG_837:g.14146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.514+49del MANE Select	ENSP00000261024.3:n.514+49del
ENST00000261024.6:c.514+49del	ENSP00000261024.2:n.514+49del
ENST00000427241.5:c.514+49del	ENSP00000390005.1:n.514+49del
NM_014585.5:c.514+49del , LRG_837t1:c.514+49del	NP_055400.1:n.514+49del
XM_005246505.1:c.394+49del	XP_005246562.1:n.394+49del
XM_005246505.2:c.394+49del	XP_005246562.1:n.394+49del
XM_017003938.2:c.394+49del	XP_016859427.1:n.394+49del
NM_014585.6:c.514+49del MANE Select	NP_055400.1:n.514+49del