Canonical Allele Identifier: CA2739891747

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997539_120997540del , CM000674.2:g.120997539_120997540del	GRCh38
NC_000012.11:g.121435342_121435343del , CM000674.1:g.121435342_121435343del	GRCh37
NC_000012.10:g.119919725_119919726del	NCBI36
NG_011731.2:g.23794_23795del , LRG_522:g.23794_23795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*122_*123del	ENSP00000453965.2:n.*122_*123del
ENST00000257555.11:c.1375_1376del MANE Select	ENSP00000257555.5:p.Leu459AlafsTer?
ENST00000257555.10:c.1375_1376del	ENSP00000257555.4:p.Leu459AlafsTer?
ENST00000400024.6:c.1375_1376del	ENSP00000476181.1:p.Leu459AlafsTer?
ENST00000402929.5:n.2241_2242del
ENST00000535955.5:n.91_92del
ENST00000538626.2:n.239_240del
ENST00000538646.5:c.*351_*352del	ENSP00000443964.1:n.*351_*352del
ENST00000540108.1:c.*815_*816del	ENSP00000445445.1:n.*815_*816del
ENST00000541395.5:c.1375_1376del	ENSP00000443112.1:p.Leu459AlafsTer?
ENST00000541924.5:c.*389_*390del	ENSP00000440361.1:n.*389_*390del
ENST00000543255.1:n.419_420del
ENST00000543427.5:c.838_839del	ENSP00000439721.2:p.Leu280AlafsTer?
ENST00000544413.2:c.1375_1376del	ENSP00000438804.1:p.Leu459AlafsTer?
ENST00000544574.5:c.*138_*139del	ENSP00000438565.1:n.*138_*139del
ENST00000560968.5:c.1192_1193del
ENST00000615446.4:c.163_164del	ENSP00000483994.1:p.Leu55AlafsTer?
ENST00000617366.4:c.587-95_587-94del	ENSP00000481967.1:n.587-95_587-94del
NM_000545.5:c.1375_1376del , LRG_522t1:c.1375_1376del	NP_000536.5:p.Leu459AlafsTer?
NM_000545.6:c.1375_1376del	NP_000536.5:p.Leu459AlafsTer?
NM_001306179.1:c.1375_1376del	NP_001293108.1:p.Leu459AlafsTer?
XM_005253931.2:c.1375_1376del	XP_005253988.1:p.Leu459AlafsTer?
XM_024449168.1:c.1375_1376del	XP_024304936.1:p.Leu459AlafsTer?
NM_000545.8:c.1375_1376del MANE Select	NP_000536.6:p.Leu459AlafsTer?
NM_001306179.2:c.1375_1376del	NP_001293108.2:p.Leu459AlafsTer?