Canonical Allele Identifier: CA214270
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs193922582
MyVariant Identifiers: chr12:g.121437075_121437076dupCT (hg19) chr12:g.121437072_121437073insCT (hg19) chr12:g.120999272_120999273dupCT (hg38) chr12:g.120999269_120999270insCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999272_120999273dup , CM000674.2:g.120999272_120999273dup GRCh38
NC_000012.11:g.121437075_121437076dup , CM000674.1:g.121437075_121437076dup GRCh37
NC_000012.10:g.119921458_119921459dup NCBI36
NG_011731.2:g.25527_25528dup , LRG_522:g.25527_25528dup

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.*253_*254dup ENSP00000453965.2:n.*253_*254dup
ENST00000257555.11:c.1506_1507dup MANE Select ENSP00000257555.5:p.Tyr503SerfsTer29
ENST00000257555.10:c.1506_1507dup ENSP00000257555.4:p.Tyr503SerfsTer29
ENST00000540108.1:c.*946_*947dup ENSP00000445445.1:n.*946_*947dup
ENST00000541395.5:c.1506_1507dup ENSP00000443112.1:p.Tyr503SerfsTer29
ENST00000543427.5:c.969_970dup ENSP00000439721.2:p.Tyr324SerfsTer29
ENST00000544413.2:c.1506_1507dup ENSP00000438804.1:p.Tyr503SerfsTer29
ENST00000560968.5:c.1323_1324dup
ENST00000615446.4:c.294_295dup ENSP00000483994.1:p.Tyr99SerfsTer29
ENST00000617366.4:c.623_624dup ENSP00000481967.1:p.Thr209LeufsTer?
NM_000545.5:c.1506_1507dup , LRG_522t1:c.1506_1507dup NP_000536.5:p.Tyr503SerfsTer29
NM_000545.6:c.1506_1507dup NP_000536.5:p.Tyr503SerfsTer29
NM_001306179.1:c.1506_1507dup NP_001293108.1:p.Tyr503SerfsTer29
XM_005253931.2:c.1506_1507dup XP_005253988.1:p.Tyr503SerfsTer29
XM_024449168.1:c.1506_1507dup XP_024304936.1:p.Tyr503SerfsTer29
NM_000545.8:c.1506_1507dup MANE Select NP_000536.6:p.Tyr503SerfsTer29
NM_001306179.2:c.1506_1507dup NP_001293108.2:p.Tyr503SerfsTer29
Search 100 bp 5'
Search 100 bp 3'