Canonical Allele Identifier: CA2782585157
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414028_144414029insAGAAACCCACCGCTGAGATGGCCTTGAGGTCCATCTTGCCTGACATGCCCTGGCCAATTAAGTTAGTCATTTCTTCCAAC , CM000670.2:g.144414028_144414029insAGAAACCCACCGCTGAGATGGCCTTGAGGTCCATCTTGCCTGACATGCCCTGGCCAATTAAGTTAGTCATTTCTTCCAAC GRCh38
NC_000008.10:g.145639412_145639413insAGAAACCCACCGCTGAGATGGCCTTGAGGTCCATCTTGCCTGACATGCCCTGGCCAATTAAGTTAGTCATTTCTTCCAAC , CM000670.1:g.145639412_145639413insAGAAACCCACCGCTGAGATGGCCTTGAGGTCCATCTTGCCTGACATGCCCTGGCCAATTAAGTTAGTCATTTCTTCCAAC GRCh37
NC_000008.9:g.145610220_145610221insAGAAACCCACCGCTGAGATGGCCTTGAGGTCCATCTTGCCTGACATGCCCTGGCCAATTAAGTTAGTCATTTCTTCCAAC NCBI36
NG_012234.2:g.7862_7863insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1216_1217insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT MANE Select ENSP00000301305.4:p.Met406SerfsTer5
ENST00000276833.9:c.1141_1142insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT ENSP00000276833.5:p.Met381SerfsTer5
ENST00000301305.7:c.1216_1217insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT ENSP00000301305.3:p.Met406SerfsTer5
ENST00000531789.1:n.53_54insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT
NM_017767.2:c.1141_1142insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT NP_060237.2:p.Met381SerfsTer5
NM_130849.3:c.1216_1217insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT NP_570901.2:p.Met406SerfsTer5
XM_006716599.1:c.1216_1217insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT XP_006716662.1:p.Met406SerfsTer5
XM_011517153.1:c.934_935insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT XP_011515455.1:p.Met312SerfsTer5
XM_024447188.1:c.934_935insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT XP_024302956.1:p.Met312SerfsTer5
XM_024447189.1:c.934_935insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT XP_024302957.1:p.Met312SerfsTer5
NM_001374839.1:c.934_935insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT NP_001361768.1:p.Met312SerfsTer5
NM_017767.3:c.1141_1142insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT NP_060237.3:p.Met381SerfsTer5
NM_130849.4:c.1216_1217insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT MANE Select NP_570901.3:p.Met406SerfsTer5