Canonical Allele Identifier: CA2636588866

Gene: SLC47A1

Linked Data

• gnomAD v4: 17-19560019-CAGTAGCGTGGGAGTTCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19560020_19560038del , CM000679.2:g.19560020_19560038del	GRCh38
NC_000017.10:g.19463333_19463351del , CM000679.1:g.19463333_19463351del	GRCh37
NC_000017.9:g.19403925_19403943del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270570.8:c.922-168_922-150del MANE Select	ENSP00000270570.4:n.922-168_922-150del
ENST00000395585.5:c.922-168_922-150del	ENSP00000378951.1:n.922-168_922-150del
ENST00000436810.6:c.853-168_853-150del	ENSP00000407155.2:n.853-168_853-150del
ENST00000495425.6:n.365-168_365-150del
ENST00000497548.5:n.1068+3958_1068+3976del
ENST00000571335.5:c.337-168_337-150del	ENSP00000462630.1:n.337-168_337-150del
ENST00000573009.1:n.232-150_232-132del
ENST00000575023.5:c.498+10343_498+10361del	ENSP00000460164.1:n.498+10343_498+10361del
ENST00000575377.5:n.187-168_187-150del
NM_018242.2:c.922-168_922-150del	NP_060712.2:n.922-168_922-150del
NM_018242.3:c.922-168_922-150del MANE Select	NP_060712.2:n.922-168_922-150del