Canonical Allele Identifier: CA658658178
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 447500
dbSNP Id: rs1555211999

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994240_120994241del , CM000674.2:g.120994240_120994241del GRCh38
NC_000012.11:g.121432043_121432044del , CM000674.1:g.121432043_121432044del GRCh37
NC_000012.10:g.119916426_119916427del NCBI36
NG_011731.2:g.20495_20496del , LRG_522:g.20495_20496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+40_750+41del ENSP00000453965.2:n.750+40_750+41del
ENST00000257555.11:c.790_791del MANE Select ENSP00000257555.5:p.Val264LeufsTer?
ENST00000257555.10:c.790_791del ENSP00000257555.4:p.Val264LeufsTer?
ENST00000400024.6:c.790_791del ENSP00000476181.1:p.Val264LeufsTer?
ENST00000402929.5:n.925_926del
ENST00000535955.5:n.43-3251_43-3250del
ENST00000538626.2:n.191-3251_191-3250del
ENST00000538646.5:c.603_604del ENSP00000443964.1:p.Ser202TyrfsTer?
ENST00000540108.1:c.*230_*231del ENSP00000445445.1:n.*230_*231del
ENST00000541395.5:c.790_791del ENSP00000443112.1:p.Val264LeufsTer?
ENST00000541924.5:c.713+534_713+535del ENSP00000440361.1:n.713+534_713+535del
ENST00000543427.5:c.633+614_633+615del ENSP00000439721.2:n.633+614_633+615del
ENST00000544413.2:c.790_791del ENSP00000438804.1:p.Val264LeufsTer?
ENST00000544574.5:c.73-2377_73-2376del ENSP00000438565.1:n.73-2377_73-2376del
ENST00000560968.5:c.893+40_893+41del
ENST00000615446.4:c.-257-2022_-257-2021del ENSP00000483994.1:n.-257-2022_-257-2021del
ENST00000617366.4:c.586+661_586+662del ENSP00000481967.1:n.586+661_586+662del
NM_000545.5:c.790_791del , LRG_522t1:c.790_791del NP_000536.5:p.Val264LeufsTer?
NM_000545.6:c.790_791del NP_000536.5:p.Val264LeufsTer?
NM_001306179.1:c.790_791del NP_001293108.1:p.Val264LeufsTer?
XM_005253931.2:c.790_791del XP_005253988.1:p.Val264LeufsTer?
XM_024449168.1:c.790_791del XP_024304936.1:p.Val264LeufsTer?
NM_000545.8:c.790_791del MANE Select NP_000536.6:p.Val264LeufsTer?
NM_001306179.2:c.790_791del NP_001293108.2:p.Val264LeufsTer?