Canonical Allele Identifier: CA608060116
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1327362108
gnomAD v2: 12-121432093-GC-G
MyVariant Identifiers: chr12:g.121432094del (hg19) chr12:g.120994291del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994291del , CM000674.2:g.120994291del GRCh38
NC_000012.11:g.121432094del , CM000674.1:g.121432094del GRCh37
NC_000012.10:g.119916477del NCBI36
NG_011731.2:g.20546del , LRG_522:g.20546del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+91del ENSP00000453965.2:n.750+91del
ENST00000257555.11:c.841del MANE Select ENSP00000257555.5:p.Leu281TrpfsTer?
ENST00000257555.10:c.841del ENSP00000257555.4:p.Leu281TrpfsTer?
ENST00000400024.6:c.841del ENSP00000476181.1:p.Leu281TrpfsTer?
ENST00000402929.5:n.976del
ENST00000535955.5:n.43-3200del
ENST00000538626.2:n.191-3200del
ENST00000538646.5:c.654del ENSP00000443964.1:p.Trp219GlyfsTer?
ENST00000540108.1:c.*281del ENSP00000445445.1:n.*281del
ENST00000541395.5:c.841del ENSP00000443112.1:p.Leu281TrpfsTer?
ENST00000541924.5:c.713+585del ENSP00000440361.1:n.713+585del
ENST00000543427.5:c.633+665del ENSP00000439721.2:n.633+665del
ENST00000544413.2:c.841del ENSP00000438804.1:p.Leu281TrpfsTer?
ENST00000544574.5:c.73-2326del ENSP00000438565.1:n.73-2326del
ENST00000560968.5:c.893+91del
ENST00000615446.4:c.-257-1971del ENSP00000483994.1:n.-257-1971del
ENST00000617366.4:c.586+712del ENSP00000481967.1:n.586+712del
NM_000545.5:c.841del , LRG_522t1:c.841del NP_000536.5:p.Leu281TrpfsTer?
NM_000545.6:c.841del NP_000536.5:p.Leu281TrpfsTer?
NM_001306179.1:c.841del NP_001293108.1:p.Leu281TrpfsTer?
XM_005253931.2:c.841del XP_005253988.1:p.Leu281TrpfsTer?
XM_024449168.1:c.841del XP_024304936.1:p.Leu281TrpfsTer?
NM_000545.8:c.841del MANE Select NP_000536.6:p.Leu281TrpfsTer?
NM_001306179.2:c.841del NP_001293108.2:p.Leu281TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'