Canonical Allele Identifier: CA2621391143
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997701_120997703del , CM000674.2:g.120997701_120997703del GRCh38
NC_000012.11:g.121435504_121435506del , CM000674.1:g.121435504_121435506del GRCh37
NC_000012.10:g.119919887_119919889del NCBI36
NG_011731.2:g.23956_23958del , LRG_522:g.23956_23958del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+36_*248+38del ENSP00000453965.2:n.*248+36_*248+38del
ENST00000257555.11:c.1501+36_1501+38del MANE Select ENSP00000257555.5:n.1501+36_1501+38del
ENST00000257555.10:c.1501+36_1501+38del ENSP00000257555.4:n.1501+36_1501+38del
ENST00000400024.6:c.1537_1539del ENSP00000476181.1:p.Asp513del
ENST00000402929.5:n.2403_2405del
ENST00000535955.5:n.253_255del
ENST00000538626.2:n.401_403del
ENST00000538646.5:c.*513_*515del ENSP00000443964.1:n.*513_*515del
ENST00000540108.1:c.*941+36_*941+38del ENSP00000445445.1:n.*941+36_*941+38del
ENST00000541395.5:c.1501+36_1501+38del ENSP00000443112.1:n.1501+36_1501+38del
ENST00000541924.5:c.*551_*553del ENSP00000440361.1:n.*551_*553del
ENST00000543255.1:n.581_583del
ENST00000543427.5:c.964+36_964+38del ENSP00000439721.2:n.964+36_964+38del
ENST00000544413.2:c.1501+36_1501+38del ENSP00000438804.1:n.1501+36_1501+38del
ENST00000544574.5:c.*300_*302del ENSP00000438565.1:n.*300_*302del
ENST00000560968.5:c.1318+36_1318+38del
ENST00000615446.4:c.289+36_289+38del ENSP00000483994.1:n.289+36_289+38del
ENST00000617366.4:c.618+36_618+38del ENSP00000481967.1:n.618+36_618+38del
NM_000545.5:c.1501+36_1501+38del , LRG_522t1:c.1501+36_1501+38del NP_000536.5:n.1501+36_1501+38del
NM_000545.6:c.1501+36_1501+38del NP_000536.5:n.1501+36_1501+38del
NM_001306179.1:c.1501+36_1501+38del NP_001293108.1:n.1501+36_1501+38del
XM_005253931.2:c.1501+36_1501+38del XP_005253988.1:n.1501+36_1501+38del
XM_024449168.1:c.1501+36_1501+38del XP_024304936.1:n.1501+36_1501+38del
NM_000545.8:c.1501+36_1501+38del MANE Select NP_000536.6:n.1501+36_1501+38del
NM_001306179.2:c.1501+36_1501+38del NP_001293108.2:n.1501+36_1501+38del