Canonical Allele Identifier: CA2695217544

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994188_120994189del , CM000674.2:g.120994188_120994189del	GRCh38
NC_000012.11:g.121431991_121431992del , CM000674.1:g.121431991_121431992del	GRCh37
NC_000012.10:g.119916374_119916375del	NCBI36
NG_011731.2:g.20443_20444del , LRG_522:g.20443_20444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.738_739del	ENSP00000453965.2:p.Ser247ProfsTer8
ENST00000257555.11:c.738_739del MANE Select	ENSP00000257555.5:p.Ser247ProfsTer?
ENST00000257555.10:c.738_739del	ENSP00000257555.4:p.Ser247ProfsTer?
ENST00000400024.6:c.738_739del	ENSP00000476181.1:p.Ser247ProfsTer?
ENST00000402929.5:n.873_874del
ENST00000535955.5:n.43-3303_43-3302del
ENST00000538626.2:n.191-3303_191-3302del
ENST00000538646.5:c.551_552del	ENSP00000443964.1:p.Cys184SerfsTer?
ENST00000540108.1:c.*178_*179del	ENSP00000445445.1:n.*178_*179del
ENST00000541395.5:c.738_739del	ENSP00000443112.1:p.Ser247ProfsTer?
ENST00000541924.5:c.713+482_713+483del	ENSP00000440361.1:n.713+482_713+483del
ENST00000543427.5:c.633+562_633+563del	ENSP00000439721.2:n.633+562_633+563del
ENST00000544413.2:c.738_739del	ENSP00000438804.1:p.Ser247ProfsTer?
ENST00000544574.5:c.73-2429_73-2428del	ENSP00000438565.1:n.73-2429_73-2428del
ENST00000560968.5:c.881_882del
ENST00000615446.4:c.-257-2074_-257-2073del	ENSP00000483994.1:n.-257-2074_-257-2073del
ENST00000617366.4:c.586+609_586+610del	ENSP00000481967.1:n.586+609_586+610del
NM_000545.5:c.738_739del , LRG_522t1:c.738_739del	NP_000536.5:p.Ser247ProfsTer?
NM_000545.6:c.738_739del	NP_000536.5:p.Ser247ProfsTer?
NM_001306179.1:c.738_739del	NP_001293108.1:p.Ser247ProfsTer?
XM_005253931.2:c.738_739del	XP_005253988.1:p.Ser247ProfsTer?
XM_024449168.1:c.738_739del	XP_024304936.1:p.Ser247ProfsTer?
NM_000545.8:c.738_739del MANE Select	NP_000536.6:p.Ser247ProfsTer?
NM_001306179.2:c.738_739del	NP_001293108.2:p.Ser247ProfsTer?