Canonical Allele Identifier: CA2067679491
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994267_120994270delinsAAAG , CM000674.2:g.120994267_120994270delinsAAAG GRCh38
NC_000012.11:g.121432070_121432073delinsAAAG , CM000674.1:g.121432070_121432073delinsAAAG GRCh37
NC_000012.10:g.119916453_119916456delinsAAAG NCBI36
NG_011731.2:g.20522_20525delinsAAAG , LRG_522:g.20522_20525delinsAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+67_750+70delinsAAAG ENSP00000453965.2:n.750+67_750+70delinsAAAG
ENST00000257555.11:c.817_820delinsAAAG MANE Select ENSP00000257555.5:p.Lys273=
ENST00000257555.10:c.817_820delinsAAAG ENSP00000257555.4:p.Lys273=
ENST00000400024.6:c.817_820delinsAAAG ENSP00000476181.1:p.Lys273=
ENST00000402929.5:n.952_955delinsAAAG
ENST00000535955.5:n.43-3224_43-3221delinsAAAG
ENST00000538626.2:n.191-3224_191-3221delinsAAAG
ENST00000538646.5:c.630_633delinsAAAG ENSP00000443964.1:p.Ala210=
ENST00000540108.1:c.*257_*260delinsAAAG ENSP00000445445.1:n.*257_*260delinsAAAG
ENST00000541395.5:c.817_820delinsAAAG ENSP00000443112.1:p.Lys273=
ENST00000541924.5:c.713+561_713+564delinsAAAG ENSP00000440361.1:n.713+561_713+564delinsAAAG
ENST00000543427.5:c.633+641_633+644delinsAAAG ENSP00000439721.2:n.633+641_633+644delinsAAAG
ENST00000544413.2:c.817_820delinsAAAG ENSP00000438804.1:p.Lys273=
ENST00000544574.5:c.73-2350_73-2347delinsAAAG ENSP00000438565.1:n.73-2350_73-2347delinsAAAG
ENST00000560968.5:c.893+67_893+70delinsAAAG
ENST00000615446.4:c.-257-1995_-257-1992delinsAAAG ENSP00000483994.1:n.-257-1995_-257-1992delinsAAAG
ENST00000617366.4:c.586+688_586+691delinsAAAG ENSP00000481967.1:n.586+688_586+691delinsAAAG
NM_000545.5:c.817_820delinsAAAG , LRG_522t1:c.817_820delinsAAAG NP_000536.5:p.Lys273=
NM_000545.6:c.817_820delinsAAAG NP_000536.5:p.Lys273=
NM_001306179.1:c.817_820delinsAAAG NP_001293108.1:p.Lys273=
XM_005253931.2:c.817_820delinsAAAG XP_005253988.1:p.Lys273=
XM_024449168.1:c.817_820delinsAAAG XP_024304936.1:p.Lys273=
NM_000545.8:c.817_820delinsAAAG MANE Select NP_000536.6:p.Lys273=
NM_001306179.2:c.817_820delinsAAAG NP_001293108.2:p.Lys273=