Canonical Allele Identifier: CA2695217570

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997544del , CM000674.2:g.120997544del	GRCh38
NC_000012.11:g.121435347del , CM000674.1:g.121435347del	GRCh37
NC_000012.10:g.119919730del	NCBI36
NG_011731.2:g.23799del , LRG_522:g.23799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*127del	ENSP00000453965.2:n.*127del
ENST00000257555.11:c.1380del MANE Select	ENSP00000257555.5:p.Gln460HisfsTer25
ENST00000257555.10:c.1380del	ENSP00000257555.4:p.Gln460HisfsTer25
ENST00000400024.6:c.1380del	ENSP00000476181.1:p.Gln460HisfsTer25
ENST00000402929.5:n.2246del
ENST00000535955.5:n.96del
ENST00000538626.2:n.244del
ENST00000538646.5:c.*356del	ENSP00000443964.1:n.*356del
ENST00000540108.1:c.*820del	ENSP00000445445.1:n.*820del
ENST00000541395.5:c.1380del	ENSP00000443112.1:p.Gln460HisfsTer25
ENST00000541924.5:c.*394del	ENSP00000440361.1:n.*394del
ENST00000543255.1:n.424del
ENST00000543427.5:c.843del	ENSP00000439721.2:p.Gln281HisfsTer25
ENST00000544413.2:c.1380del	ENSP00000438804.1:p.Gln460HisfsTer25
ENST00000544574.5:c.*143del	ENSP00000438565.1:n.*143del
ENST00000560968.5:c.1197del
ENST00000615446.4:c.168del	ENSP00000483994.1:p.Gln56HisfsTer25
ENST00000617366.4:c.587-90del	ENSP00000481967.1:n.587-90del
NM_000545.5:c.1380del , LRG_522t1:c.1380del	NP_000536.5:p.Gln460HisfsTer25
NM_000545.6:c.1380del	NP_000536.5:p.Gln460HisfsTer25
NM_001306179.1:c.1380del	NP_001293108.1:p.Gln460HisfsTer25
XM_005253931.2:c.1380del	XP_005253988.1:p.Gln460HisfsTer25
XM_024449168.1:c.1380del	XP_024304936.1:p.Gln460HisfsTer25
NM_000545.8:c.1380del MANE Select	NP_000536.6:p.Gln460HisfsTer25
NM_001306179.2:c.1380del	NP_001293108.2:p.Gln460HisfsTer25