Canonical Allele Identifier: CA2663117630

Gene: SLC11A1

Linked Data

• gnomAD v4: 2-218395024-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395026del , CM000664.2:g.218395026del	GRCh38
NC_000002.11:g.219259749del , CM000664.1:g.219259749del	GRCh37
NC_000002.10:g.218967993del	NCBI36
NG_012128.1:g.17998del
NG_030418.1:g.1689del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1644del MANE Select	ENSP00000233202.6:p.Ser549LeufsTer15
ENST00000233202.10:c.1644del	ENSP00000233202.6:p.Ser549LeufsTer15
ENST00000354352.9:c.*1226del	ENSP00000346320.5:n.*1226del
ENST00000465984.5:n.2120del
ENST00000468221.5:n.4771del
NM_000578.3:c.1644del	NP_000569.3:p.Ser549LeufsTer15
XM_005246793.2:c.1443del	XP_005246850.1:p.Ser482LeufsTer15
XM_005246794.2:c.1290del	XP_005246851.1:p.Ser431LeufsTer15
XM_006712709.2:c.1290del	XP_006712772.1:p.Ser431LeufsTer15
XM_006712710.2:c.1290del	XP_006712773.1:p.Ser431LeufsTer15
XM_006712711.2:c.1197del	XP_006712774.1:p.Ser400LeufsTer15
XM_011511684.1:c.1317del	XP_011509986.1:p.Ser440LeufsTer15
XM_011511685.1:c.1317del	XP_011509987.1:p.Ser440LeufsTer15
XM_005246793.4:c.1443del	XP_005246850.1:p.Ser482LeufsTer15
XM_005246794.4:c.1290del	XP_005246851.1:p.Ser431LeufsTer15
XM_006712709.4:c.1290del	XP_006712772.1:p.Ser431LeufsTer15
XM_006712710.4:c.1290del	XP_006712773.1:p.Ser431LeufsTer15
XM_006712711.4:c.1197del	XP_006712774.1:p.Ser400LeufsTer15
XM_011511684.3:c.1317del	XP_011509986.1:p.Ser440LeufsTer15
XM_011511685.3:c.1317del	XP_011509987.1:p.Ser440LeufsTer15
XM_017004765.2:c.1521del	XP_016860254.1:p.Ser508LeufsTer15
XM_017004766.2:c.1443del	XP_016860255.1:p.Ser482LeufsTer15
XM_017004767.2:c.1275del	XP_016860256.1:p.Ser426LeufsTer15
XR_427107.3:n.2659del
XR_427108.4:n.2970del
NM_000578.4:c.1644del MANE Select	NP_000569.3:p.Ser549LeufsTer15