Canonical Allele Identifier: CA2580085933
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1701214
ClinVar RCV Id: RCV002275499
dbSNP Id: rs2135842474
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994349_120994350delinsTCCCCTG , CM000674.2:g.120994349_120994350delinsTCCCCTG GRCh38
NC_000012.11:g.121432152_121432153delinsTCCCCTG , CM000674.1:g.121432152_121432153delinsTCCCCTG GRCh37
NC_000012.10:g.119916535_119916536delinsTCCCCTG NCBI36
NG_011731.2:g.20604_20605delinsTCCCCTG , LRG_522:g.20604_20605delinsTCCCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+149_750+150delinsTCCCCTG ENSP00000453965.2:n.750+149_750+150delinsTCCCCTG
ENST00000257555.11:c.899_900delinsTCCCCTG MANE Select ENSP00000257555.5:p.Pro300LeufsTer?
ENST00000257555.10:c.899_900delinsTCCCCTG ENSP00000257555.4:p.Pro300LeufsTer?
ENST00000400024.6:c.899_900delinsTCCCCTG ENSP00000476181.1:p.Pro300LeufsTer?
ENST00000402929.5:n.1034_1035delinsTCCCCTG
ENST00000535955.5:n.43-3142_43-3141delinsTCCCCTG
ENST00000538626.2:n.191-3142_191-3141delinsTCCCCTG
ENST00000538646.5:c.712_713delinsTCCCCTG ENSP00000443964.1:p.Pro238SerfsTer18
ENST00000540108.1:c.*339_*340delinsTCCCCTG ENSP00000445445.1:n.*339_*340delinsTCCCCTG
ENST00000541395.5:c.899_900delinsTCCCCTG ENSP00000443112.1:p.Pro300LeufsTer?
ENST00000541924.5:c.713+643_713+644delinsTCCCCTG ENSP00000440361.1:n.713+643_713+644delinsTCCCCTG
ENST00000543427.5:c.633+723_633+724delinsTCCCCTG ENSP00000439721.2:n.633+723_633+724delinsTCCCCTG
ENST00000544413.2:c.899_900delinsTCCCCTG ENSP00000438804.1:p.Pro300LeufsTer?
ENST00000544574.5:c.73-2268_73-2267delinsTCCCCTG ENSP00000438565.1:n.73-2268_73-2267delinsTCCCCTG
ENST00000560968.5:c.893+149_893+150delinsTCCCCTG
ENST00000615446.4:c.-257-1913_-257-1912delinsTCCCCTG ENSP00000483994.1:n.-257-1913_-257-1912delinsTCCCCTG
ENST00000617366.4:c.586+770_586+771delinsTCCCCTG ENSP00000481967.1:n.586+770_586+771delinsTCCCCTG
NM_000545.5:c.899_900delinsTCCCCTG , LRG_522t1:c.899_900delinsTCCCCTG NP_000536.5:p.Pro300LeufsTer?
NM_000545.6:c.899_900delinsTCCCCTG NP_000536.5:p.Pro300LeufsTer?
NM_001306179.1:c.899_900delinsTCCCCTG NP_001293108.1:p.Pro300LeufsTer?
XM_005253931.2:c.899_900delinsTCCCCTG XP_005253988.1:p.Pro300LeufsTer?
XM_024449168.1:c.899_900delinsTCCCCTG XP_024304936.1:p.Pro300LeufsTer?
NM_000545.8:c.899_900delinsTCCCCTG MANE Select NP_000536.6:p.Pro300LeufsTer?
NM_001306179.2:c.899_900delinsTCCCCTG NP_001293108.2:p.Pro300LeufsTer?
Search 100 bp 5'
Search 100 bp 3'