Canonical Allele Identifier: CA645587989
Gene: HNF1A HGNC NCBI

Linked Data

COSMIC: COSM46427

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993643_120993647del , CM000674.2:g.120993643_120993647del GRCh38
NC_000012.11:g.121431446_121431450del , CM000674.1:g.121431446_121431450del GRCh37
NC_000012.10:g.119915829_119915833del NCBI36
NG_011731.2:g.19898_19902del , LRG_522:g.19898_19902del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.650_654del ENSP00000453965.2:p.Ala217GlyfsTer7
ENST00000257555.11:c.650_654del MANE Select ENSP00000257555.5:p.Ala217GlyfsTer7
ENST00000257555.10:c.650_654del ENSP00000257555.4:p.Ala217GlyfsTer7
ENST00000400024.6:c.650_654del ENSP00000476181.1:p.Ala217GlyfsTer7
ENST00000402929.5:n.785_789del
ENST00000535955.5:n.43-3848_43-3844del
ENST00000538626.2:n.191-3848_191-3844del
ENST00000538646.5:c.527-521_527-517del ENSP00000443964.1:n.527-521_527-517del
ENST00000540108.1:c.*90_*94del ENSP00000445445.1:n.*90_*94del
ENST00000541395.5:c.650_654del ENSP00000443112.1:p.Ala217GlyfsTer7
ENST00000541924.5:c.650_654del ENSP00000440361.1:p.Ala217GlyfsTer7
ENST00000543427.5:c.633+17_633+21del ENSP00000439721.2:n.633+17_633+21del
ENST00000544413.2:c.650_654del ENSP00000438804.1:p.Ala217GlyfsTer7
ENST00000544574.5:c.73-2974_73-2970del ENSP00000438565.1:n.73-2974_73-2970del
ENST00000560968.5:c.793_797del
ENST00000615446.4:c.-257-2619_-257-2615del ENSP00000483994.1:n.-257-2619_-257-2615del
ENST00000617366.4:c.586+64_586+68del ENSP00000481967.1:n.586+64_586+68del
NM_000545.5:c.650_654del , LRG_522t1:c.650_654del NP_000536.5:p.Ala217GlyfsTer7
NM_000545.6:c.650_654del NP_000536.5:p.Ala217GlyfsTer7
NM_001306179.1:c.650_654del NP_001293108.1:p.Ala217GlyfsTer7
XM_005253931.2:c.650_654del XP_005253988.1:p.Ala217GlyfsTer7
XM_024449168.1:c.650_654del XP_024304936.1:p.Ala217GlyfsTer7
NM_000545.8:c.650_654del MANE Select NP_000536.6:p.Ala217GlyfsTer7
NM_001306179.2:c.650_654del NP_001293108.2:p.Ala217GlyfsTer7