Canonical Allele Identifier: CA2621390985
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997354_120997356del , CM000674.2:g.120997354_120997356del GRCh38
NC_000012.11:g.121435157_121435159del , CM000674.1:g.121435157_121435159del GRCh37
NC_000012.10:g.119919540_119919542del NCBI36
NG_011731.2:g.23609_23611del , LRG_522:g.23609_23611del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*57-120_*57-118del ENSP00000453965.2:n.*57-120_*57-118del
ENST00000257555.11:c.1310-120_1310-118del MANE Select ENSP00000257555.5:n.1310-120_1310-118del
ENST00000257555.10:c.1310-120_1310-118del ENSP00000257555.4:n.1310-120_1310-118del
ENST00000400024.6:c.1310-120_1310-118del ENSP00000476181.1:n.1310-120_1310-118del
ENST00000402929.5:n.2056_2058del
ENST00000535955.5:n.43-137_43-135del
ENST00000538626.2:n.191-137_191-135del
ENST00000538646.5:c.*286-120_*286-118del ENSP00000443964.1:n.*286-120_*286-118del
ENST00000540108.1:c.*750-120_*750-118del ENSP00000445445.1:n.*750-120_*750-118del
ENST00000541395.5:c.1310-120_1310-118del ENSP00000443112.1:n.1310-120_1310-118del
ENST00000541924.5:c.*324-120_*324-118del ENSP00000440361.1:n.*324-120_*324-118del
ENST00000543255.1:n.354-120_354-118del
ENST00000543427.5:c.773-120_773-118del ENSP00000439721.2:n.773-120_773-118del
ENST00000544413.2:c.1310-120_1310-118del ENSP00000438804.1:n.1310-120_1310-118del
ENST00000544574.5:c.*73-120_*73-118del ENSP00000438565.1:n.*73-120_*73-118del
ENST00000560968.5:c.1127-120_1127-118del
ENST00000615446.4:c.98-120_98-118del ENSP00000483994.1:n.98-120_98-118del
ENST00000617366.4:c.587-280_587-278del ENSP00000481967.1:n.587-280_587-278del
NM_000545.5:c.1310-120_1310-118del , LRG_522t1:c.1310-120_1310-118del NP_000536.5:n.1310-120_1310-118del
NM_000545.6:c.1310-120_1310-118del NP_000536.5:n.1310-120_1310-118del
NM_001306179.1:c.1310-120_1310-118del NP_001293108.1:n.1310-120_1310-118del
XM_005253931.2:c.1310-120_1310-118del XP_005253988.1:n.1310-120_1310-118del
XM_024449168.1:c.1310-120_1310-118del XP_024304936.1:n.1310-120_1310-118del
NM_000545.8:c.1310-120_1310-118del MANE Select NP_000536.6:n.1310-120_1310-118del
NM_001306179.2:c.1310-120_1310-118del NP_001293108.2:n.1310-120_1310-118del