Canonical Allele Identifier: CA2797726540
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997442_120997443dup , CM000674.2:g.120997442_120997443dup GRCh38
NC_000012.11:g.121435245_121435246dup , CM000674.1:g.121435245_121435246dup GRCh37
NC_000012.10:g.119919628_119919629dup NCBI36
NG_011731.2:g.23697_23698dup , LRG_522:g.23697_23698dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*57-32_*57-31dup ENSP00000453965.2:n.*57-32_*57-31dup
ENST00000257555.11:c.1310-32_1310-31dup MANE Select ENSP00000257555.5:n.1310-32_1310-31dup
ENST00000257555.10:c.1310-32_1310-31dup ENSP00000257555.4:n.1310-32_1310-31dup
ENST00000400024.6:c.1310-32_1310-31dup ENSP00000476181.1:n.1310-32_1310-31dup
ENST00000402929.5:n.2144_2145dup
ENST00000535955.5:n.43-49_43-48dup
ENST00000538626.2:n.191-49_191-48dup
ENST00000538646.5:c.*286-32_*286-31dup ENSP00000443964.1:n.*286-32_*286-31dup
ENST00000540108.1:c.*750-32_*750-31dup ENSP00000445445.1:n.*750-32_*750-31dup
ENST00000541395.5:c.1310-32_1310-31dup ENSP00000443112.1:n.1310-32_1310-31dup
ENST00000541924.5:c.*324-32_*324-31dup ENSP00000440361.1:n.*324-32_*324-31dup
ENST00000543255.1:n.354-32_354-31dup
ENST00000543427.5:c.773-32_773-31dup ENSP00000439721.2:n.773-32_773-31dup
ENST00000544413.2:c.1310-32_1310-31dup ENSP00000438804.1:n.1310-32_1310-31dup
ENST00000544574.5:c.*73-32_*73-31dup ENSP00000438565.1:n.*73-32_*73-31dup
ENST00000560968.5:c.1127-32_1127-31dup
ENST00000615446.4:c.98-32_98-31dup ENSP00000483994.1:n.98-32_98-31dup
ENST00000617366.4:c.587-192_587-191dup ENSP00000481967.1:n.587-192_587-191dup
NM_000545.5:c.1310-32_1310-31dup , LRG_522t1:c.1310-32_1310-31dup NP_000536.5:n.1310-32_1310-31dup
NM_000545.6:c.1310-32_1310-31dup NP_000536.5:n.1310-32_1310-31dup
NM_001306179.1:c.1310-32_1310-31dup NP_001293108.1:n.1310-32_1310-31dup
XM_005253931.2:c.1310-32_1310-31dup XP_005253988.1:n.1310-32_1310-31dup
XM_024449168.1:c.1310-32_1310-31dup XP_024304936.1:n.1310-32_1310-31dup
NM_000545.8:c.1310-32_1310-31dup MANE Select NP_000536.6:n.1310-32_1310-31dup
NM_001306179.2:c.1310-32_1310-31dup NP_001293108.2:n.1310-32_1310-31dup