Canonical Allele Identifier: CA2621391094
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997437_120997438del , CM000674.2:g.120997437_120997438del GRCh38
NC_000012.11:g.121435240_121435241del , CM000674.1:g.121435240_121435241del GRCh37
NC_000012.10:g.119919623_119919624del NCBI36
NG_011731.2:g.23692_23693del , LRG_522:g.23692_23693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*57-37_*57-36del ENSP00000453965.2:n.*57-37_*57-36del
ENST00000257555.11:c.1310-37_1310-36del MANE Select ENSP00000257555.5:n.1310-37_1310-36del
ENST00000257555.10:c.1310-37_1310-36del ENSP00000257555.4:n.1310-37_1310-36del
ENST00000400024.6:c.1310-37_1310-36del ENSP00000476181.1:n.1310-37_1310-36del
ENST00000402929.5:n.2139_2140del
ENST00000535955.5:n.43-54_43-53del
ENST00000538626.2:n.191-54_191-53del
ENST00000538646.5:c.*286-37_*286-36del ENSP00000443964.1:n.*286-37_*286-36del
ENST00000540108.1:c.*750-37_*750-36del ENSP00000445445.1:n.*750-37_*750-36del
ENST00000541395.5:c.1310-37_1310-36del ENSP00000443112.1:n.1310-37_1310-36del
ENST00000541924.5:c.*324-37_*324-36del ENSP00000440361.1:n.*324-37_*324-36del
ENST00000543255.1:n.354-37_354-36del
ENST00000543427.5:c.773-37_773-36del ENSP00000439721.2:n.773-37_773-36del
ENST00000544413.2:c.1310-37_1310-36del ENSP00000438804.1:n.1310-37_1310-36del
ENST00000544574.5:c.*73-37_*73-36del ENSP00000438565.1:n.*73-37_*73-36del
ENST00000560968.5:c.1127-37_1127-36del
ENST00000615446.4:c.98-37_98-36del ENSP00000483994.1:n.98-37_98-36del
ENST00000617366.4:c.587-197_587-196del ENSP00000481967.1:n.587-197_587-196del
NM_000545.5:c.1310-37_1310-36del , LRG_522t1:c.1310-37_1310-36del NP_000536.5:n.1310-37_1310-36del
NM_000545.6:c.1310-37_1310-36del NP_000536.5:n.1310-37_1310-36del
NM_001306179.1:c.1310-37_1310-36del NP_001293108.1:n.1310-37_1310-36del
XM_005253931.2:c.1310-37_1310-36del XP_005253988.1:n.1310-37_1310-36del
XM_024449168.1:c.1310-37_1310-36del XP_024304936.1:n.1310-37_1310-36del
NM_000545.8:c.1310-37_1310-36del MANE Select NP_000536.6:n.1310-37_1310-36del
NM_001306179.2:c.1310-37_1310-36del NP_001293108.2:n.1310-37_1310-36del