Canonical Allele Identifier: CA2067679583
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994312_120994346delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT , CM000674.2:g.120994312_120994346delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT GRCh38
NC_000012.11:g.121432115_121432149delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT , CM000674.1:g.121432115_121432149delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT GRCh37
NC_000012.10:g.119916498_119916532delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT NCBI36
NG_011731.2:g.20567_20601delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT , LRG_522:g.20567_20601delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+112_750+146delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000453965.2:n.750+112_750+146delinsGGGCCCCCCCCAGGGCCAGG...
ENST00000257555.11:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT MANE Select ENSP00000257555.5:p.Gly288=
ENST00000257555.10:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000257555.4:p.Gly288=
ENST00000400024.6:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000476181.1:p.Gly288=
ENST00000402929.5:n.997_1031delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT
ENST00000535955.5:n.43-3179_43-3145delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT
ENST00000538626.2:n.191-3179_191-3145delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT
ENST00000538646.5:c.675_709delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000443964.1:p.Ala225=
ENST00000540108.1:c.*302_*336delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000445445.1:n.*302_*336delinsGGGCCCCCCCCAGGGCCAGGCCCGGG...
ENST00000541395.5:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000443112.1:p.Gly288=
ENST00000541924.5:c.713+606_713+640delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000440361.1:n.713+606_713+640delinsGGGCCCCCCCCAGGGCCAGG...
ENST00000543427.5:c.633+686_633+720delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000439721.2:n.633+686_633+720delinsGGGCCCCCCCCAGGGCCAGG...
ENST00000544413.2:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000438804.1:p.Gly288=
ENST00000544574.5:c.73-2305_73-2271delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000438565.1:n.73-2305_73-2271delinsGGGCCCCCCCCAGGGCCAGG...
ENST00000560968.5:c.893+112_893+146delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT
ENST00000615446.4:c.-257-1950_-257-1916delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000483994.1:n.-257-1950_-257-1916delinsGGGCCCCCCCCAGGGC...
ENST00000617366.4:c.586+733_586+767delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT ENSP00000481967.1:n.586+733_586+767delinsGGGCCCCCCCCAGGGCCAGG...
NM_000545.5:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT , LRG_522t1:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT NP_000536.5:p.Gly288=
NM_000545.6:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT NP_000536.5:p.Gly288=
NM_001306179.1:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT NP_001293108.1:p.Gly288=
XM_005253931.2:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT XP_005253988.1:p.Gly288=
XM_024449168.1:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT XP_024304936.1:p.Gly288=
NM_000545.8:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT MANE Select NP_000536.6:p.Gly288=
NM_001306179.2:c.862_896delinsGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT NP_001293108.2:p.Gly288=