Canonical Allele Identifier: CA658658177
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 452526
dbSNP Id: rs1555211975

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994172_120994175dup , CM000674.2:g.120994172_120994175dup GRCh38
NC_000012.11:g.121431975_121431978dup , CM000674.1:g.121431975_121431978dup GRCh37
NC_000012.10:g.119916358_119916361dup NCBI36
NG_011731.2:g.20427_20430dup , LRG_522:g.20427_20430dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.722_725dup ENSP00000453965.2:p.Ile242MetfsTer15
ENST00000257555.11:c.722_725dup MANE Select ENSP00000257555.5:p.Ile242MetfsTer?
ENST00000257555.10:c.722_725dup ENSP00000257555.4:p.Ile242MetfsTer?
ENST00000400024.6:c.722_725dup ENSP00000476181.1:p.Ile242MetfsTer?
ENST00000402929.5:n.857_860dup
ENST00000535955.5:n.43-3319_43-3316dup
ENST00000538626.2:n.191-3319_191-3316dup
ENST00000538646.5:c.535_538dup ENSP00000443964.1:p.Ser180CysfsTer?
ENST00000540108.1:c.*162_*165dup ENSP00000445445.1:n.*162_*165dup
ENST00000541395.5:c.722_725dup ENSP00000443112.1:p.Ile242MetfsTer?
ENST00000541924.5:c.713+466_713+469dup ENSP00000440361.1:n.713+466_713+469dup
ENST00000543427.5:c.633+546_633+549dup ENSP00000439721.2:n.633+546_633+549dup
ENST00000544413.2:c.722_725dup ENSP00000438804.1:p.Ile242MetfsTer?
ENST00000544574.5:c.73-2445_73-2442dup ENSP00000438565.1:n.73-2445_73-2442dup
ENST00000560968.5:c.865_868dup
ENST00000615446.4:c.-257-2090_-257-2087dup ENSP00000483994.1:n.-257-2090_-257-2087dup
ENST00000617366.4:c.586+593_586+596dup ENSP00000481967.1:n.586+593_586+596dup
NM_000545.5:c.722_725dup , LRG_522t1:c.722_725dup NP_000536.5:p.Ile242MetfsTer?
NM_000545.6:c.722_725dup NP_000536.5:p.Ile242MetfsTer?
NM_001306179.1:c.722_725dup NP_001293108.1:p.Ile242MetfsTer?
XM_005253931.2:c.722_725dup XP_005253988.1:p.Ile242MetfsTer?
XM_024449168.1:c.722_725dup XP_024304936.1:p.Ile242MetfsTer?
NM_000545.8:c.722_725dup MANE Select NP_000536.6:p.Ile242MetfsTer?
NM_001306179.2:c.722_725dup NP_001293108.2:p.Ile242MetfsTer?