Canonical Allele Identifier: CA2067685740
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997538_120997565delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG , CM000674.2:g.120997538_120997565delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG GRCh38
NC_000012.11:g.121435341_121435368delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG , CM000674.1:g.121435341_121435368delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG GRCh37
NC_000012.10:g.119919724_119919751delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG NCBI36
NG_011731.2:g.23793_23820delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG , LRG_522:g.23793_23820delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*121_*148delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000453965.2:n.*121_*148delinsCCTGCAGCCCGTCCAGTTCTCCCAGC...
ENST00000257555.11:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG MANE Select ENSP00000257555.5:p.Thr458=
ENST00000257555.10:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000257555.4:p.Thr458=
ENST00000400024.6:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000476181.1:p.Thr458=
ENST00000402929.5:n.2240_2267delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG
ENST00000535955.5:n.90_117delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG
ENST00000538626.2:n.238_265delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG
ENST00000538646.5:c.*350_*377delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000443964.1:n.*350_*377delinsCCTGCAGCCCGTCCAGTTCTCCCAGC...
ENST00000540108.1:c.*814_*841delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000445445.1:n.*814_*841delinsCCTGCAGCCCGTCCAGTTCTCCCAGC...
ENST00000541395.5:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000443112.1:p.Thr458=
ENST00000541924.5:c.*388_*415delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000440361.1:n.*388_*415delinsCCTGCAGCCCGTCCAGTTCTCCCAGC...
ENST00000543255.1:n.418_445delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG
ENST00000543427.5:c.837_864delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000439721.2:p.Thr279=
ENST00000544413.2:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000438804.1:p.Thr458=
ENST00000544574.5:c.*137_*164delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000438565.1:n.*137_*164delinsCCTGCAGCCCGTCCAGTTCTCCCAGC...
ENST00000560968.5:c.1191_1218delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG
ENST00000615446.4:c.162_189delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000483994.1:p.Thr54=
ENST00000617366.4:c.587-96_587-69delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG ENSP00000481967.1:n.587-96_587-69delinsCCTGCAGCCCGTCCAGTTCTCC...
NM_000545.5:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG , LRG_522t1:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG NP_000536.5:p.Thr458=
NM_000545.6:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG NP_000536.5:p.Thr458=
NM_001306179.1:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG NP_001293108.1:p.Thr458=
XM_005253931.2:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG XP_005253988.1:p.Thr458=
XM_024449168.1:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG XP_024304936.1:p.Thr458=
NM_000545.8:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG MANE Select NP_000536.6:p.Thr458=
NM_001306179.2:c.1374_1401delinsCCTGCAGCCCGTCCAGTTCTCCCAGCCG NP_001293108.2:p.Thr458=