Canonical Allele Identifier: CA2695213824
Gene: SLC39A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415138del , CM000673.2:g.47415138del GRCh38
NC_000011.9:g.47436689del , CM000673.1:g.47436689del GRCh37
NC_000011.8:g.47393265del NCBI36
NG_017073.1:g.11644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1019del MANE Select ENSP00000354689.4:p.Leu340ProfsTer23
ENST00000354884.8:c.998del ENSP00000346956.4:p.Leu333ProfsTer23
ENST00000362021.8:c.1019del ENSP00000354689.4:p.Leu340ProfsTer23
ENST00000524886.1:n.277del
ENST00000524928.1:c.*1221del ENSP00000437186.1:n.*1221del
ENST00000527829.1:n.251del
ENST00000533076.5:c.*16del ENSP00000434290.1:n.*16del
NM_001128225.2:c.1019del NP_001121697.1:p.Leu340ProfsTer23
NM_152264.4:c.998del NP_689477.2:p.Leu333ProfsTer23
XM_006718381.2:c.1043del XP_006718444.1:p.Leu348ProfsTer23
XM_006718383.2:c.935del XP_006718446.1:p.Leu312ProfsTer23
XM_006718384.2:c.*16del XP_006718447.1:n.*16del
XM_006718385.2:c.*16del XP_006718448.1:n.*16del
XM_011520466.1:c.1064del XP_011518768.1:p.Leu355ProfsTer23
XM_011520467.1:c.1019del XP_011518769.1:p.Leu340ProfsTer23
XM_011520468.1:c.1019del XP_011518770.1:p.Leu340ProfsTer23
XM_011520469.1:c.956del XP_011518771.1:p.Leu319ProfsTer23
XM_011520470.1:c.911del XP_011518772.1:p.Leu304ProfsTer23
XR_242832.1:n.1404del
XR_428862.2:n.1079del
XR_428863.2:n.1075del
XR_930928.1:n.1100del
NM_001330245.1:c.*16del NP_001317174.1:n.*16del
NR_134854.1:n.1260del
XM_006718381.3:c.1043del XP_006718444.1:p.Leu348ProfsTer23
XM_006718383.3:c.935del XP_006718446.1:p.Leu312ProfsTer23
XM_011520468.3:c.1019del XP_011518770.1:p.Leu340ProfsTer23
XM_011520470.2:c.911del XP_011518772.1:p.Leu304ProfsTer23
XM_017018540.2:c.998del XP_016874029.1:p.Leu333ProfsTer23
XM_017018541.2:c.890del XP_016874030.1:p.Leu297ProfsTer23
XM_024448762.1:c.1148del XP_024304530.1:p.Leu383ProfsTer23
XR_001748027.1:n.1219del
XR_001748028.1:n.1201del
XR_428862.3:n.1079del
XR_428863.3:n.1075del
XR_930928.2:n.1100del
NM_001128225.3:c.1019del MANE Select NP_001121697.2:p.Leu340ProfsTer23
NM_001330245.2:c.*16del NP_001317174.2:n.*16del
NM_152264.5:c.998del NP_689477.3:p.Leu333ProfsTer23