Canonical Allele Identifier: CA2621383797
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994320_120994322dup , CM000674.2:g.120994320_120994322dup GRCh38
NC_000012.11:g.121432123_121432125dup , CM000674.1:g.121432123_121432125dup GRCh37
NC_000012.10:g.119916506_119916508dup NCBI36
NG_011731.2:g.20575_20577dup , LRG_522:g.20575_20577dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+120_750+122dup ENSP00000453965.2:n.750+120_750+122dup
ENST00000257555.11:c.870_872dup MANE Select ENSP00000257555.5:p.Pro291_Gly292insPro
ENST00000257555.10:c.870_872dup ENSP00000257555.4:p.Pro291_Gly292insPro
ENST00000400024.6:c.870_872dup ENSP00000476181.1:p.Pro291_Gly292insPro
ENST00000402929.5:n.1005_1007dup
ENST00000535955.5:n.43-3171_43-3169dup
ENST00000538626.2:n.191-3171_191-3169dup
ENST00000538646.5:c.683_685dup ENSP00000443964.1:p.Pro228_Gln229insPro
ENST00000540108.1:c.*310_*312dup ENSP00000445445.1:n.*310_*312dup
ENST00000541395.5:c.870_872dup ENSP00000443112.1:p.Pro291_Gly292insPro
ENST00000541924.5:c.713+614_713+616dup ENSP00000440361.1:n.713+614_713+616dup
ENST00000543427.5:c.633+694_633+696dup ENSP00000439721.2:n.633+694_633+696dup
ENST00000544413.2:c.870_872dup ENSP00000438804.1:p.Pro291_Gly292insPro
ENST00000544574.5:c.73-2297_73-2295dup ENSP00000438565.1:n.73-2297_73-2295dup
ENST00000560968.5:c.893+120_893+122dup
ENST00000615446.4:c.-257-1942_-257-1940dup ENSP00000483994.1:n.-257-1942_-257-1940dup
ENST00000617366.4:c.586+741_586+743dup ENSP00000481967.1:n.586+741_586+743dup
NM_000545.5:c.870_872dup , LRG_522t1:c.870_872dup NP_000536.5:p.Pro291_Gly292insPro
NM_000545.6:c.870_872dup NP_000536.5:p.Pro291_Gly292insPro
NM_001306179.1:c.870_872dup NP_001293108.1:p.Pro291_Gly292insPro
XM_005253931.2:c.870_872dup XP_005253988.1:p.Pro291_Gly292insPro
XM_024449168.1:c.870_872dup XP_024304936.1:p.Pro291_Gly292insPro
NM_000545.8:c.870_872dup MANE Select NP_000536.6:p.Pro291_Gly292insPro
NM_001306179.2:c.870_872dup NP_001293108.2:p.Pro291_Gly292insPro