Canonical Allele Identifier: CA2621391145
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997704dup , CM000674.2:g.120997704dup GRCh38
NC_000012.11:g.121435507dup , CM000674.1:g.121435507dup GRCh37
NC_000012.10:g.119919890dup NCBI36
NG_011731.2:g.23959dup , LRG_522:g.23959dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+39dup ENSP00000453965.2:n.*248+39dup
ENST00000257555.11:c.1501+39dup MANE Select ENSP00000257555.5:n.1501+39dup
ENST00000257555.10:c.1501+39dup ENSP00000257555.4:n.1501+39dup
ENST00000400024.6:c.1540dup ENSP00000476181.1:p.Arg514LysfsTer?
ENST00000402929.5:n.2406dup
ENST00000535955.5:n.256dup
ENST00000538626.2:n.404dup
ENST00000538646.5:c.*516dup ENSP00000443964.1:n.*516dup
ENST00000540108.1:c.*941+39dup ENSP00000445445.1:n.*941+39dup
ENST00000541395.5:c.1501+39dup ENSP00000443112.1:n.1501+39dup
ENST00000541924.5:c.*554dup ENSP00000440361.1:n.*554dup
ENST00000543255.1:n.584dup
ENST00000543427.5:c.964+39dup ENSP00000439721.2:n.964+39dup
ENST00000544413.2:c.1501+39dup ENSP00000438804.1:n.1501+39dup
ENST00000544574.5:c.*303dup ENSP00000438565.1:n.*303dup
ENST00000560968.5:c.1318+39dup
ENST00000615446.4:c.289+39dup ENSP00000483994.1:n.289+39dup
ENST00000617366.4:c.618+39dup ENSP00000481967.1:n.618+39dup
NM_000545.5:c.1501+39dup , LRG_522t1:c.1501+39dup NP_000536.5:n.1501+39dup
NM_000545.6:c.1501+39dup NP_000536.5:n.1501+39dup
NM_001306179.1:c.1501+39dup NP_001293108.1:n.1501+39dup
XM_005253931.2:c.1501+39dup XP_005253988.1:n.1501+39dup
XM_024449168.1:c.1501+39dup XP_024304936.1:n.1501+39dup
NM_000545.8:c.1501+39dup MANE Select NP_000536.6:n.1501+39dup
NM_001306179.2:c.1501+39dup NP_001293108.2:n.1501+39dup