Canonical Allele Identifier: CA645587998
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM46423

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994246_120994248dup , CM000674.2:g.120994246_120994248dup GRCh38
NC_000012.11:g.121432049_121432051dup , CM000674.1:g.121432049_121432051dup GRCh37
NC_000012.10:g.119916432_119916434dup NCBI36
NG_011731.2:g.20501_20503dup , LRG_522:g.20501_20503dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+46_750+48dup ENSP00000453965.2:n.750+46_750+48dup
ENST00000257555.11:c.796_798dup MANE Select ENSP00000257555.5:p.Asn266_Trp267insAsn
ENST00000257555.10:c.796_798dup ENSP00000257555.4:p.Asn266_Trp267insAsn
ENST00000400024.6:c.796_798dup ENSP00000476181.1:p.Asn266_Trp267insAsn
ENST00000402929.5:n.931_933dup
ENST00000535955.5:n.43-3245_43-3243dup
ENST00000538626.2:n.191-3245_191-3243dup
ENST00000538646.5:c.609_611dup ENSP00000443964.1:p.Thr204_Gly205insThr
ENST00000540108.1:c.*236_*238dup ENSP00000445445.1:n.*236_*238dup
ENST00000541395.5:c.796_798dup ENSP00000443112.1:p.Asn266_Trp267insAsn
ENST00000541924.5:c.713+540_713+542dup ENSP00000440361.1:n.713+540_713+542dup
ENST00000543427.5:c.633+620_633+622dup ENSP00000439721.2:n.633+620_633+622dup
ENST00000544413.2:c.796_798dup ENSP00000438804.1:p.Asn266_Trp267insAsn
ENST00000544574.5:c.73-2371_73-2369dup ENSP00000438565.1:n.73-2371_73-2369dup
ENST00000560968.5:c.893+46_893+48dup
ENST00000615446.4:c.-257-2016_-257-2014dup ENSP00000483994.1:n.-257-2016_-257-2014dup
ENST00000617366.4:c.586+667_586+669dup ENSP00000481967.1:n.586+667_586+669dup
NM_000545.5:c.796_798dup , LRG_522t1:c.796_798dup NP_000536.5:p.Asn266_Trp267insAsn
NM_000545.6:c.796_798dup NP_000536.5:p.Asn266_Trp267insAsn
NM_001306179.1:c.796_798dup NP_001293108.1:p.Asn266_Trp267insAsn
XM_005253931.2:c.796_798dup XP_005253988.1:p.Asn266_Trp267insAsn
XM_024449168.1:c.796_798dup XP_024304936.1:p.Asn266_Trp267insAsn
NM_000545.8:c.796_798dup MANE Select NP_000536.6:p.Asn266_Trp267insAsn
NM_001306179.2:c.796_798dup NP_001293108.2:p.Asn266_Trp267insAsn