Canonical Allele Identifier: CA2575322023

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993732del , CM000674.2:g.120993732del	GRCh38
NC_000012.11:g.121431535del , CM000674.1:g.121431535del	GRCh37
NC_000012.10:g.119915918del	NCBI36
NG_011731.2:g.19987del , LRG_522:g.19987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.713+26del	ENSP00000453965.2:n.713+26del
ENST00000257555.11:c.713+26del MANE Select	ENSP00000257555.5:n.713+26del
ENST00000257555.10:c.713+26del	ENSP00000257555.4:n.713+26del
ENST00000400024.6:c.713+26del	ENSP00000476181.1:n.713+26del
ENST00000402929.5:n.848+26del
ENST00000535955.5:n.43-3759del
ENST00000538626.2:n.191-3759del
ENST00000538646.5:c.527-432del	ENSP00000443964.1:n.527-432del
ENST00000540108.1:c.*153+26del	ENSP00000445445.1:n.*153+26del
ENST00000541395.5:c.713+26del	ENSP00000443112.1:n.713+26del
ENST00000541924.5:c.713+26del	ENSP00000440361.1:n.713+26del
ENST00000543427.5:c.633+106del	ENSP00000439721.2:n.633+106del
ENST00000544413.2:c.713+26del	ENSP00000438804.1:n.713+26del
ENST00000544574.5:c.73-2885del	ENSP00000438565.1:n.73-2885del
ENST00000560968.5:c.856+26del
ENST00000615446.4:c.-257-2530del	ENSP00000483994.1:n.-257-2530del
ENST00000617366.4:c.586+153del	ENSP00000481967.1:n.586+153del
NM_000545.5:c.713+26del , LRG_522t1:c.713+26del	NP_000536.5:n.713+26del
NM_000545.6:c.713+26del	NP_000536.5:n.713+26del
NM_001306179.1:c.713+26del	NP_001293108.1:n.713+26del
XM_005253931.2:c.713+26del	XP_005253988.1:n.713+26del
XM_024449168.1:c.713+26del	XP_024304936.1:n.713+26del
NM_000545.8:c.713+26del MANE Select	NP_000536.6:n.713+26del
NM_001306179.2:c.713+26del	NP_001293108.2:n.713+26del