Canonical Allele Identifier: CA2580612114
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993610_120993619dup , CM000674.2:g.120993610_120993619dup GRCh38
NC_000012.11:g.121431413_121431422dup , CM000674.1:g.121431413_121431422dup GRCh37
NC_000012.10:g.119915796_119915805dup NCBI36
NG_011731.2:g.19865_19874dup , LRG_522:g.19865_19874dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.617_626dup ENSP00000453965.2:p.Ser210GlyfsTer13
ENST00000257555.11:c.617_626dup MANE Select ENSP00000257555.5:p.Ser210GlyfsTer13
ENST00000257555.10:c.617_626dup ENSP00000257555.4:p.Ser210GlyfsTer13
ENST00000400024.6:c.617_626dup ENSP00000476181.1:p.Ser210GlyfsTer13
ENST00000402929.5:n.752_761dup
ENST00000535955.5:n.43-3881_43-3872dup
ENST00000538626.2:n.191-3881_191-3872dup
ENST00000538646.5:c.527-554_527-545dup ENSP00000443964.1:n.527-554_527-545dup
ENST00000540108.1:c.*57_*66dup ENSP00000445445.1:n.*57_*66dup
ENST00000541395.5:c.617_626dup ENSP00000443112.1:p.Ser210GlyfsTer13
ENST00000541924.5:c.617_626dup ENSP00000440361.1:p.Ser210GlyfsTer13
ENST00000543427.5:c.617_626dup ENSP00000439721.2:p.Ser210GlyfsTer33
ENST00000544413.2:c.617_626dup ENSP00000438804.1:p.Ser210GlyfsTer13
ENST00000544574.5:c.73-3007_73-2998dup ENSP00000438565.1:n.73-3007_73-2998dup
ENST00000560968.5:c.760_769dup
ENST00000615446.4:c.-257-2652_-257-2643dup ENSP00000483994.1:n.-257-2652_-257-2643dup
ENST00000617366.4:c.586+31_586+40dup ENSP00000481967.1:n.586+31_586+40dup
NM_000545.5:c.617_626dup , LRG_522t1:c.617_626dup NP_000536.5:p.Ser210GlyfsTer13
NM_000545.6:c.617_626dup NP_000536.5:p.Ser210GlyfsTer13
NM_001306179.1:c.617_626dup NP_001293108.1:p.Ser210GlyfsTer13
XM_005253931.2:c.617_626dup XP_005253988.1:p.Ser210GlyfsTer13
XM_024449168.1:c.617_626dup XP_024304936.1:p.Ser210GlyfsTer13
NM_000545.8:c.617_626dup MANE Select NP_000536.6:p.Ser210GlyfsTer13
NM_001306179.2:c.617_626dup NP_001293108.2:p.Ser210GlyfsTer13