Canonical Allele Identifier: CA2695217562
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997513dup , CM000674.2:g.120997513dup GRCh38
NC_000012.11:g.121435316dup , CM000674.1:g.121435316dup GRCh37
NC_000012.10:g.119919699dup NCBI36
NG_011731.2:g.23768dup , LRG_522:g.23768dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*96dup ENSP00000453965.2:n.*96dup
ENST00000257555.11:c.1349dup MANE Select ENSP00000257555.5:p.Asn450LysfsTer?
ENST00000257555.10:c.1349dup ENSP00000257555.4:p.Asn450LysfsTer?
ENST00000400024.6:c.1349dup ENSP00000476181.1:p.Asn450LysfsTer?
ENST00000402929.5:n.2215dup
ENST00000535955.5:n.65dup
ENST00000538626.2:n.213dup
ENST00000538646.5:c.*325dup ENSP00000443964.1:n.*325dup
ENST00000540108.1:c.*789dup ENSP00000445445.1:n.*789dup
ENST00000541395.5:c.1349dup ENSP00000443112.1:p.Asn450LysfsTer?
ENST00000541924.5:c.*363dup ENSP00000440361.1:n.*363dup
ENST00000543255.1:n.393dup
ENST00000543427.5:c.812dup ENSP00000439721.2:p.Asn271LysfsTer?
ENST00000544413.2:c.1349dup ENSP00000438804.1:p.Asn450LysfsTer?
ENST00000544574.5:c.*112dup ENSP00000438565.1:n.*112dup
ENST00000560968.5:c.1166dup
ENST00000615446.4:c.137dup ENSP00000483994.1:p.Asn46LysfsTer?
ENST00000617366.4:c.587-121dup ENSP00000481967.1:n.587-121dup
NM_000545.5:c.1349dup , LRG_522t1:c.1349dup NP_000536.5:p.Asn450LysfsTer?
NM_000545.6:c.1349dup NP_000536.5:p.Asn450LysfsTer?
NM_001306179.1:c.1349dup NP_001293108.1:p.Asn450LysfsTer?
XM_005253931.2:c.1349dup XP_005253988.1:p.Asn450LysfsTer?
XM_024449168.1:c.1349dup XP_024304936.1:p.Asn450LysfsTer?
NM_000545.8:c.1349dup MANE Select NP_000536.6:p.Asn450LysfsTer?
NM_001306179.2:c.1349dup NP_001293108.2:p.Asn450LysfsTer?