Canonical Allele Identifier: CA2621392497
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999603_120999606del , CM000674.2:g.120999603_120999606del GRCh38
NC_000012.11:g.121437406_121437409del , CM000674.1:g.121437406_121437409del GRCh37
NC_000012.10:g.119921789_119921792del NCBI36
NG_011731.2:g.25858_25861del , LRG_522:g.25858_25861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*491_*494del ENSP00000453965.2:n.*491_*494del
ENST00000257555.11:c.1744_1747del MANE Select ENSP00000257555.5:p.His582GlyfsTer?
ENST00000257555.10:c.1744_1747del ENSP00000257555.4:p.His582GlyfsTer?
ENST00000540108.1:c.*1184_*1187del ENSP00000445445.1:n.*1184_*1187del
ENST00000541395.5:c.1837_1840del ENSP00000443112.1:p.His613GlyfsTer?
ENST00000543427.5:c.1207_1210del ENSP00000439721.2:p.His403GlyfsTer?
ENST00000544413.2:c.1765_1768del ENSP00000438804.1:p.His589GlyfsTer?
ENST00000560968.5:c.1561_1564del
ENST00000615446.4:c.532_535del ENSP00000483994.1:p.His178GlyfsTer?
ENST00000617366.4:c.*153_*156del ENSP00000481967.1:n.*153_*156del
NM_000545.5:c.1744_1747del , LRG_522t1:c.1744_1747del NP_000536.5:p.His582GlyfsTer?
NM_000545.6:c.1744_1747del NP_000536.5:p.His582GlyfsTer?
NM_001306179.1:c.1765_1768del NP_001293108.1:p.His589GlyfsTer?
XM_005253931.2:c.1837_1840del XP_005253988.1:p.His613GlyfsTer?
XM_024449168.1:c.1837_1840del XP_024304936.1:p.His613GlyfsTer?
NM_000545.8:c.1744_1747del MANE Select NP_000536.6:p.His582GlyfsTer?
NM_001306179.2:c.1765_1768del NP_001293108.2:p.His589GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'