Canonical Allele Identifier: CA2695217577
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997615_120997634del , CM000674.2:g.120997615_120997634del GRCh38
NC_000012.11:g.121435418_121435437del , CM000674.1:g.121435418_121435437del GRCh37
NC_000012.10:g.119919801_119919820del NCBI36
NG_011731.2:g.23870_23889del , LRG_522:g.23870_23889del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*198_*217del ENSP00000453965.2:n.*198_*217del
ENST00000257555.11:c.1451_1470del MANE Select ENSP00000257555.5:p.Val484GlyfsTer?
ENST00000257555.10:c.1451_1470del ENSP00000257555.4:p.Val484GlyfsTer?
ENST00000400024.6:c.1451_1470del ENSP00000476181.1:p.Val484GlyfsTer12
ENST00000402929.5:n.2317_2336del
ENST00000535955.5:n.167_186del
ENST00000538626.2:n.315_334del
ENST00000538646.5:c.*427_*446del ENSP00000443964.1:n.*427_*446del
ENST00000540108.1:c.*891_*910del ENSP00000445445.1:n.*891_*910del
ENST00000541395.5:c.1451_1470del ENSP00000443112.1:p.Val484GlyfsTer?
ENST00000541924.5:c.*465_*484del ENSP00000440361.1:n.*465_*484del
ENST00000543255.1:n.495_514del
ENST00000543427.5:c.914_933del ENSP00000439721.2:p.Val305GlyfsTer?
ENST00000544413.2:c.1451_1470del ENSP00000438804.1:p.Val484GlyfsTer?
ENST00000544574.5:c.*214_*233del ENSP00000438565.1:n.*214_*233del
ENST00000560968.5:c.1268_1287del
ENST00000615446.4:c.239_258del ENSP00000483994.1:p.Val80GlyfsTer?
ENST00000617366.4:c.587-19_587del
NM_000545.5:c.1451_1470del , LRG_522t1:c.1451_1470del NP_000536.5:p.Val484GlyfsTer?
NM_000545.6:c.1451_1470del NP_000536.5:p.Val484GlyfsTer?
NM_001306179.1:c.1451_1470del NP_001293108.1:p.Val484GlyfsTer?
XM_005253931.2:c.1451_1470del XP_005253988.1:p.Val484GlyfsTer?
XM_024449168.1:c.1451_1470del XP_024304936.1:p.Val484GlyfsTer?
NM_000545.8:c.1451_1470del MANE Select NP_000536.6:p.Val484GlyfsTer?
NM_001306179.2:c.1451_1470del NP_001293108.2:p.Val484GlyfsTer?