Canonical Allele Identifier: CA2695217529

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993675_120993677del , CM000674.2:g.120993675_120993677del	GRCh38
NC_000012.11:g.121431478_121431480del , CM000674.1:g.121431478_121431480del	GRCh37
NC_000012.10:g.119915861_119915863del	NCBI36
NG_011731.2:g.19930_19932del , LRG_522:g.19930_19932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.682_684del	ENSP00000453965.2:p.Glu228del
ENST00000257555.11:c.682_684del MANE Select	ENSP00000257555.5:p.Glu228del
ENST00000257555.10:c.682_684del	ENSP00000257555.4:p.Glu228del
ENST00000400024.6:c.682_684del	ENSP00000476181.1:p.Glu228del
ENST00000402929.5:n.817_819del
ENST00000535955.5:n.43-3816_43-3814del
ENST00000538626.2:n.191-3816_191-3814del
ENST00000538646.5:c.527-489_527-487del	ENSP00000443964.1:n.527-489_527-487del
ENST00000540108.1:c.*122_*124del	ENSP00000445445.1:n.*122_*124del
ENST00000541395.5:c.682_684del	ENSP00000443112.1:p.Glu228del
ENST00000541924.5:c.682_684del	ENSP00000440361.1:p.Glu228del
ENST00000543427.5:c.633+49_633+51del	ENSP00000439721.2:n.633+49_633+51del
ENST00000544413.2:c.682_684del	ENSP00000438804.1:p.Glu228del
ENST00000544574.5:c.73-2942_73-2940del	ENSP00000438565.1:n.73-2942_73-2940del
ENST00000560968.5:c.825_827del
ENST00000615446.4:c.-257-2587_-257-2585del	ENSP00000483994.1:n.-257-2587_-257-2585del
ENST00000617366.4:c.586+96_586+98del	ENSP00000481967.1:n.586+96_586+98del
NM_000545.5:c.682_684del , LRG_522t1:c.682_684del	NP_000536.5:p.Glu228del
NM_000545.6:c.682_684del	NP_000536.5:p.Glu228del
NM_001306179.1:c.682_684del	NP_001293108.1:p.Glu228del
XM_005253931.2:c.682_684del	XP_005253988.1:p.Glu228del
XM_024449168.1:c.682_684del	XP_024304936.1:p.Glu228del
NM_000545.8:c.682_684del MANE Select	NP_000536.6:p.Glu228del
NM_001306179.2:c.682_684del	NP_001293108.2:p.Glu228del