Canonical Allele Identifier: CA2067679366
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994237_120994239delinsCGT , CM000674.2:g.120994237_120994239delinsCGT GRCh38
NC_000012.11:g.121432040_121432042delinsCGT , CM000674.1:g.121432040_121432042delinsCGT GRCh37
NC_000012.10:g.119916423_119916425delinsCGT NCBI36
NG_011731.2:g.20492_20494delinsCGT , LRG_522:g.20492_20494delinsCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+37_750+39delinsCGT ENSP00000453965.2:n.750+37_750+39delinsCGT
ENST00000257555.11:c.787_789delinsCGT MANE Select ENSP00000257555.5:p.Arg263=
ENST00000257555.10:c.787_789delinsCGT ENSP00000257555.4:p.Arg263=
ENST00000400024.6:c.787_789delinsCGT ENSP00000476181.1:p.Arg263=
ENST00000402929.5:n.922_924delinsCGT
ENST00000535955.5:n.43-3254_43-3252delinsCGT
ENST00000538626.2:n.191-3254_191-3252delinsCGT
ENST00000538646.5:c.600_602delinsCGT ENSP00000443964.1:p.Cys200=
ENST00000540108.1:c.*227_*229delinsCGT ENSP00000445445.1:n.*227_*229delinsCGT
ENST00000541395.5:c.787_789delinsCGT ENSP00000443112.1:p.Arg263=
ENST00000541924.5:c.713+531_713+533delinsCGT ENSP00000440361.1:n.713+531_713+533delinsCGT
ENST00000543427.5:c.633+611_633+613delinsCGT ENSP00000439721.2:n.633+611_633+613delinsCGT
ENST00000544413.2:c.787_789delinsCGT ENSP00000438804.1:p.Arg263=
ENST00000544574.5:c.73-2380_73-2378delinsCGT ENSP00000438565.1:n.73-2380_73-2378delinsCGT
ENST00000560968.5:c.893+37_893+39delinsCGT
ENST00000615446.4:c.-257-2025_-257-2023delinsCGT ENSP00000483994.1:n.-257-2025_-257-2023delinsCGT
ENST00000617366.4:c.586+658_586+660delinsCGT ENSP00000481967.1:n.586+658_586+660delinsCGT
NM_000545.5:c.787_789delinsCGT , LRG_522t1:c.787_789delinsCGT NP_000536.5:p.Arg263=
NM_000545.6:c.787_789delinsCGT NP_000536.5:p.Arg263=
NM_001306179.1:c.787_789delinsCGT NP_001293108.1:p.Arg263=
XM_005253931.2:c.787_789delinsCGT XP_005253988.1:p.Arg263=
XM_024449168.1:c.787_789delinsCGT XP_024304936.1:p.Arg263=
NM_000545.8:c.787_789delinsCGT MANE Select NP_000536.6:p.Arg263=
NM_001306179.2:c.787_789delinsCGT NP_001293108.2:p.Arg263=