Canonical Allele Identifier: CA2839530463
Gene: SLC11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218384264_218384265insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG , CM000664.2:g.218384264_218384265insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG GRCh38
NC_000002.11:g.219248987_219248988insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG , CM000664.1:g.219248987_219248988insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG GRCh37
NC_000002.10:g.218957231_218957232insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG NCBI36
NG_012128.1:g.7236_7237insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000233202.11:c.172_173insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG MANE Select ENSP00000233202.6:p.Leu58delinsProGlyProValLysAlaHisSerPheArg...
ENST00000233202.10:c.172_173insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG ENSP00000233202.6:p.Leu58delinsProGlyProValLysAlaHisSerPheArg...
ENST00000354352.9:c.172_173insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG ENSP00000346320.5:p.Leu58delinsProGlyProValLysAlaHisSerPheArg...
ENST00000465984.5:n.332-883_332-882insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000468221.5:n.1652_1653insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000469449.1:n.578_579insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000469799.5:n.98-883_98-882insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000471875.5:n.119_120insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000473367.5:c.151-55_151-54insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG ENSP00000484905.1:n.151-55_151-54insCAGGCCCCGTGAAGGCCCATAGCTT...
ENST00000475225.5:n.186-55_186-54insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000481524.5:c.8-883_8-882insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG ENSP00000483970.1:n.8-883_8-882insCAGGCCCCGTGAAGGCCCATAGCTTCC...
ENST00000483487.2:n.98_99insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000492413.5:n.254_255insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000494322.5:n.268_269insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
ENST00000539932.5:c.29_30insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG ENSP00000443435.2:p.Ala11ArgfsTer7
NM_000578.3:c.172_173insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG NP_000569.3:p.Leu58delinsProGlyProValLysAlaHisSerPheArgArgLeu...
XM_005246793.2:c.-30_-29insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_005246850.1:n.-30_-29insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCT...
XM_005246794.2:c.-257_-256insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_005246851.1:n.-257_-256insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGG...
XM_006712709.2:c.-257_-256insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_006712772.1:n.-257_-256insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGG...
XM_006712710.2:c.-155-883_-155-882insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_006712773.1:n.-155-883_-155-882insCAGGCCCCGTGAAGGCCCATAGCT...
XM_006712711.2:c.-174-883_-174-882insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_006712774.1:n.-174-883_-174-882insCAGGCCCCGTGAAGGCCCATAGCT...
XM_011511684.1:c.-265_-264insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_011509986.1:n.-265_-264insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGG...
XM_011511685.1:c.-265_-264insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_011509987.1:n.-265_-264insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGG...
XR_427107.1:n.335_336insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
XR_427108.2:n.632_633insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
XM_005246793.4:c.-30_-29insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_005246850.1:n.-30_-29insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCT...
XM_005246794.4:c.-257_-256insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_005246851.1:n.-257_-256insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGG...
XM_006712709.4:c.-257_-256insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_006712772.1:n.-257_-256insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGG...
XM_006712710.4:c.-155-883_-155-882insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_006712773.1:n.-155-883_-155-882insCAGGCCCCGTGAAGGCCCATAGCT...
XM_006712711.4:c.-174-883_-174-882insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_006712774.1:n.-174-883_-174-882insCAGGCCCCGTGAAGGCCCATAGCT...
XM_011511684.3:c.-265_-264insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_011509986.1:n.-265_-264insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGG...
XM_011511685.3:c.-265_-264insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_011509987.1:n.-265_-264insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGG...
XM_017004765.2:c.151-883_151-882insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_016860254.1:n.151-883_151-882insCAGGCCCCGTGAAGGCCCATAGCTTC...
XM_017004766.2:c.-30_-29insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_016860255.1:n.-30_-29insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCT...
XM_017004767.2:c.172_173insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG XP_016860256.1:p.Leu58delinsProGlyProValLysAlaHisSerPheArgArg...
XR_427107.3:n.321_322insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
XR_427108.4:n.632_633insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG
NM_000578.4:c.172_173insCAGGCCCCGTGAAGGCCCATAGCTTCCGCAGGCTGAAGG MANE Select NP_000569.3:p.Leu58delinsProGlyProValLysAlaHisSerPheArgArgLeu...