Canonical Allele Identifier: CA214314
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs193922599
MyVariant Identifiers: chr12:g.121431462_121431464del (hg19) chr12:g.120993659_120993661del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993659_120993661del , CM000674.2:g.120993659_120993661del GRCh38
NC_000012.11:g.121431462_121431464del , CM000674.1:g.121431462_121431464del GRCh37
NC_000012.10:g.119915845_119915847del NCBI36
NG_011731.2:g.19914_19916del , LRG_522:g.19914_19916del

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.666_668del ENSP00000453965.2:p.Lys222del
ENST00000257555.11:c.666_668del MANE Select ENSP00000257555.5:p.Lys222del
ENST00000257555.10:c.666_668del ENSP00000257555.4:p.Lys222del
ENST00000400024.6:c.666_668del ENSP00000476181.1:p.Lys222del
ENST00000402929.5:n.801_803del
ENST00000535955.5:n.43-3832_43-3830del
ENST00000538626.2:n.191-3832_191-3830del
ENST00000538646.5:c.527-505_527-503del ENSP00000443964.1:n.527-505_527-503del
ENST00000540108.1:c.*106_*108del ENSP00000445445.1:n.*106_*108del
ENST00000541395.5:c.666_668del ENSP00000443112.1:p.Lys222del
ENST00000541924.5:c.666_668del ENSP00000440361.1:p.Lys222del
ENST00000543427.5:c.633+33_633+35del ENSP00000439721.2:n.633+33_633+35del
ENST00000544413.2:c.666_668del ENSP00000438804.1:p.Lys222del
ENST00000544574.5:c.73-2958_73-2956del ENSP00000438565.1:n.73-2958_73-2956del
ENST00000560968.5:c.809_811del
ENST00000615446.4:c.-257-2603_-257-2601del ENSP00000483994.1:n.-257-2603_-257-2601de...
ENST00000617366.4:c.586+80_586+82del ENSP00000481967.1:n.586+80_586+82del
NM_000545.5:c.666_668del , LRG_522t1:c.666_668del NP_000536.5:p.Lys222del
NM_000545.6:c.666_668del NP_000536.5:p.Lys222del
NM_001306179.1:c.666_668del NP_001293108.1:p.Lys222del
XM_005253931.2:c.666_668del XP_005253988.1:p.Lys222del
XM_024449168.1:c.666_668del XP_024304936.1:p.Lys222del
NM_000545.8:c.666_668del MANE Select NP_000536.6:p.Lys222del
NM_001306179.2:c.666_668del NP_001293108.2:p.Lys222del
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