Canonical Allele Identifier: CA2695217566
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997533_120997547dup , CM000674.2:g.120997533_120997547dup GRCh38
NC_000012.11:g.121435336_121435350dup , CM000674.1:g.121435336_121435350dup GRCh37
NC_000012.10:g.119919719_119919733dup NCBI36
NG_011731.2:g.23788_23802dup , LRG_522:g.23788_23802dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*116_*130dup ENSP00000453965.2:n.*116_*130dup
ENST00000257555.11:c.1369_1383dup MANE Select ENSP00000257555.5:p.Pro461_Val462insThrThrLeuGlnPro
ENST00000257555.10:c.1369_1383dup ENSP00000257555.4:p.Pro461_Val462insThrThrLeuGlnPro
ENST00000400024.6:c.1369_1383dup ENSP00000476181.1:p.Pro461_Val462insThrThrLeuGlnPro
ENST00000402929.5:n.2235_2249dup
ENST00000535955.5:n.85_99dup
ENST00000538626.2:n.233_247dup
ENST00000538646.5:c.*345_*359dup ENSP00000443964.1:n.*345_*359dup
ENST00000540108.1:c.*809_*823dup ENSP00000445445.1:n.*809_*823dup
ENST00000541395.5:c.1369_1383dup ENSP00000443112.1:p.Pro461_Val462insThrThrLeuGlnPro
ENST00000541924.5:c.*383_*397dup ENSP00000440361.1:n.*383_*397dup
ENST00000543255.1:n.413_427dup
ENST00000543427.5:c.832_846dup ENSP00000439721.2:p.Pro282_Val283insThrThrLeuGlnPro
ENST00000544413.2:c.1369_1383dup ENSP00000438804.1:p.Pro461_Val462insThrThrLeuGlnPro
ENST00000544574.5:c.*132_*146dup ENSP00000438565.1:n.*132_*146dup
ENST00000560968.5:c.1186_1200dup
ENST00000615446.4:c.157_171dup ENSP00000483994.1:p.Pro57_Val58insThrThrLeuGlnPro
ENST00000617366.4:c.587-101_587-87dup ENSP00000481967.1:n.587-101_587-87dup
NM_000545.5:c.1369_1383dup , LRG_522t1:c.1369_1383dup NP_000536.5:p.Pro461_Val462insThrThrLeuGlnPro
NM_000545.6:c.1369_1383dup NP_000536.5:p.Pro461_Val462insThrThrLeuGlnPro
NM_001306179.1:c.1369_1383dup NP_001293108.1:p.Pro461_Val462insThrThrLeuGlnPro
XM_005253931.2:c.1369_1383dup XP_005253988.1:p.Pro461_Val462insThrThrLeuGlnPro
XM_024449168.1:c.1369_1383dup XP_024304936.1:p.Pro461_Val462insThrThrLeuGlnPro
NM_000545.8:c.1369_1383dup MANE Select NP_000536.6:p.Pro461_Val462insThrThrLeuGlnPro
NM_001306179.2:c.1369_1383dup NP_001293108.2:p.Pro461_Val462insThrThrLeuGlnPro