Canonical Allele Identifier: CA2842149970

Gene: SLC11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218384255dup , CM000664.2:g.218384255dup	GRCh38
NC_000002.11:g.219248978dup , CM000664.1:g.219248978dup	GRCh37
NC_000002.10:g.218957222dup	NCBI36
NG_012128.1:g.7227dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.163dup MANE Select	ENSP00000233202.6:p.Leu55ProfsTer?
ENST00000233202.10:c.163dup	ENSP00000233202.6:p.Leu55ProfsTer?
ENST00000354352.9:c.163dup	ENSP00000346320.5:p.Leu55ProfsTer?
ENST00000465984.5:n.332-892dup
ENST00000468221.5:n.1643dup
ENST00000469449.1:n.569dup
ENST00000469799.5:n.98-892dup
ENST00000471875.5:n.110dup
ENST00000473367.5:c.151-64dup	ENSP00000484905.1:n.151-64dup
ENST00000475225.5:n.186-64dup
ENST00000481524.5:c.8-892dup	ENSP00000483970.1:n.8-892dup
ENST00000483487.2:n.89dup
ENST00000492413.5:n.245dup
ENST00000494322.5:n.259dup
ENST00000539932.5:c.20dup	ENSP00000443435.2:p.Ala8CysfsTer14
NM_000578.3:c.163dup	NP_000569.3:p.Leu55ProfsTer?
XM_005246793.2:c.-39dup	XP_005246850.1:n.-39dup
XM_005246794.2:c.-266dup	XP_005246851.1:n.-266dup
XM_006712709.2:c.-266dup	XP_006712772.1:n.-266dup
XM_006712710.2:c.-155-892dup	XP_006712773.1:n.-155-892dup
XM_006712711.2:c.-174-892dup	XP_006712774.1:n.-174-892dup
XM_011511684.1:c.-274dup	XP_011509986.1:n.-274dup
XM_011511685.1:c.-274dup	XP_011509987.1:n.-274dup
XR_427107.1:n.326dup
XR_427108.2:n.623dup
XM_005246793.4:c.-39dup	XP_005246850.1:n.-39dup
XM_005246794.4:c.-266dup	XP_005246851.1:n.-266dup
XM_006712709.4:c.-266dup	XP_006712772.1:n.-266dup
XM_006712710.4:c.-155-892dup	XP_006712773.1:n.-155-892dup
XM_006712711.4:c.-174-892dup	XP_006712774.1:n.-174-892dup
XM_011511684.3:c.-274dup	XP_011509986.1:n.-274dup
XM_011511685.3:c.-274dup	XP_011509987.1:n.-274dup
XM_017004765.2:c.151-892dup	XP_016860254.1:n.151-892dup
XM_017004766.2:c.-39dup	XP_016860255.1:n.-39dup
XM_017004767.2:c.163dup	XP_016860256.1:p.Leu55ProfsTer?
XR_427107.3:n.312dup
XR_427108.4:n.623dup
NM_000578.4:c.163dup MANE Select	NP_000569.3:p.Leu55ProfsTer?