Canonical Allele Identifier: CA2797726221
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994335_120994340del , CM000674.2:g.120994335_120994340del GRCh38
NC_000012.11:g.121432138_121432143del , CM000674.1:g.121432138_121432143del GRCh37
NC_000012.10:g.119916521_119916526del NCBI36
NG_011731.2:g.20590_20595del , LRG_522:g.20590_20595del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+135_750+140del ENSP00000453965.2:n.750+135_750+140del
ENST00000257555.11:c.885_890del MANE Select ENSP00000257555.5:p.Gly296_Pro297del
ENST00000257555.10:c.885_890del ENSP00000257555.4:p.Gly296_Pro297del
ENST00000400024.6:c.885_890del ENSP00000476181.1:p.Gly296_Pro297del
ENST00000402929.5:n.1020_1025del
ENST00000535955.5:n.43-3156_43-3151del
ENST00000538626.2:n.191-3156_191-3151del
ENST00000538646.5:c.698_703del ENSP00000443964.1:p.Arg233_Asp234del
ENST00000540108.1:c.*325_*330del ENSP00000445445.1:n.*325_*330del
ENST00000541395.5:c.885_890del ENSP00000443112.1:p.Gly296_Pro297del
ENST00000541924.5:c.713+629_713+634del ENSP00000440361.1:n.713+629_713+634del
ENST00000543427.5:c.633+709_633+714del ENSP00000439721.2:n.633+709_633+714del
ENST00000544413.2:c.885_890del ENSP00000438804.1:p.Gly296_Pro297del
ENST00000544574.5:c.73-2282_73-2277del ENSP00000438565.1:n.73-2282_73-2277del
ENST00000560968.5:c.893+135_893+140del
ENST00000615446.4:c.-257-1927_-257-1922del ENSP00000483994.1:n.-257-1927_-257-1922del
ENST00000617366.4:c.586+756_586+761del ENSP00000481967.1:n.586+756_586+761del
NM_000545.5:c.885_890del , LRG_522t1:c.885_890del NP_000536.5:p.Gly296_Pro297del
NM_000545.6:c.885_890del NP_000536.5:p.Gly296_Pro297del
NM_001306179.1:c.885_890del NP_001293108.1:p.Gly296_Pro297del
XM_005253931.2:c.885_890del XP_005253988.1:p.Gly296_Pro297del
XM_024449168.1:c.885_890del XP_024304936.1:p.Gly296_Pro297del
NM_000545.8:c.885_890del MANE Select NP_000536.6:p.Gly296_Pro297del
NM_001306179.2:c.885_890del NP_001293108.2:p.Gly296_Pro297del