Canonical Allele Identifier: CA645587991
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM251348
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993682_120993712del , CM000674.2:g.120993682_120993712del GRCh38
NC_000012.11:g.121431485_121431515del , CM000674.1:g.121431485_121431515del GRCh37
NC_000012.10:g.119915868_119915898del NCBI36
NG_011731.2:g.19937_19967del , LRG_522:g.19937_19967del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.689_713+6del
ENST00000257555.11:c.689_713+6del
ENST00000257555.10:c.689_713+6del
ENST00000400024.6:c.689_713+6del
ENST00000402929.5:n.824_848+6del
ENST00000535955.5:n.43-3809_43-3779del
ENST00000538626.2:n.191-3809_191-3779del
ENST00000538646.5:c.527-482_527-452del ENSP00000443964.1:n.527-482_527-452del
ENST00000540108.1:c.*129_*153+6del
ENST00000541395.5:c.689_713+6del
ENST00000541924.5:c.689_713+6del
ENST00000543427.5:c.633+56_633+86del ENSP00000439721.2:n.633+56_633+86del
ENST00000544413.2:c.689_713+6del
ENST00000544574.5:c.73-2935_73-2905del ENSP00000438565.1:n.73-2935_73-2905del
ENST00000560968.5:c.832_856+6del
ENST00000615446.4:c.-257-2580_-257-2550del ENSP00000483994.1:n.-257-2580_-257-2550del
ENST00000617366.4:c.586+103_586+133del ENSP00000481967.1:n.586+103_586+133del
NM_000545.5:c.689_713+6del , LRG_522t1:c.689_713+6del
NM_000545.6:c.689_713+6del
NM_001306179.1:c.689_713+6del
XM_005253931.2:c.689_713+6del
XM_024449168.1:c.689_713+6del
NM_000545.8:c.689_713+6del
NM_001306179.2:c.689_713+6del
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