Canonical Allele Identifier: CA2695217503

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996265_120996268dup , CM000674.2:g.120996265_120996268dup	GRCh38
NC_000012.11:g.121434068_121434071dup , CM000674.1:g.121434068_121434071dup	GRCh37
NC_000012.10:g.119918451_119918454dup	NCBI36
NG_011731.2:g.22520_22523dup , LRG_522:g.22520_22523dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-118_751-115dup	ENSP00000453965.2:n.751-118_751-115dup
ENST00000257555.11:c.959_962dup MANE Select	ENSP00000257555.5:p.Tyr322AlafsTer9
ENST00000257555.10:c.959_962dup	ENSP00000257555.4:p.Tyr322AlafsTer9
ENST00000400024.6:c.959_962dup	ENSP00000476181.1:p.Tyr322AlafsTer9
ENST00000402929.5:n.1094_1097dup
ENST00000535955.5:n.43-1226_43-1223dup
ENST00000538626.2:n.191-1226_191-1223dup
ENST00000538646.5:c.772_775dup	ENSP00000443964.1:p.Ala259ValfsTer?
ENST00000540108.1:c.*399_*402dup	ENSP00000445445.1:n.*399_*402dup
ENST00000541395.5:c.959_962dup	ENSP00000443112.1:p.Tyr322AlafsTer9
ENST00000541924.5:c.717_720dup	ENSP00000440361.1:p.Leu241CysfsTer22
ENST00000543427.5:c.634-339_634-336dup	ENSP00000439721.2:n.634-339_634-336dup
ENST00000544413.2:c.959_962dup	ENSP00000438804.1:p.Tyr322AlafsTer9
ENST00000544574.5:c.73-352_73-349dup	ENSP00000438565.1:n.73-352_73-349dup
ENST00000560968.5:c.894-118_894-115dup
ENST00000615446.4:c.-254_-251dup	ENSP00000483994.1:n.-254_-251dup
ENST00000617366.4:c.587-1369_587-1366dup	ENSP00000481967.1:n.587-1369_587-1366dup
NM_000545.5:c.959_962dup , LRG_522t1:c.959_962dup	NP_000536.5:p.Tyr322AlafsTer9
NM_000545.6:c.959_962dup	NP_000536.5:p.Tyr322AlafsTer9
NM_001306179.1:c.959_962dup	NP_001293108.1:p.Tyr322AlafsTer9
XM_005253931.2:c.959_962dup	XP_005253988.1:p.Tyr322AlafsTer9
XM_024449168.1:c.959_962dup	XP_024304936.1:p.Tyr322AlafsTer9
NM_000545.8:c.959_962dup MANE Select	NP_000536.6:p.Tyr322AlafsTer9
NM_001306179.2:c.959_962dup	NP_001293108.2:p.Tyr322AlafsTer9