Canonical Allele Identifier: CA2573051035
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1676686
ClinVar RCV Id: RCV002222083
dbSNP Id: rs2135819895
gnomAD v4: 12-120978951-CA-C
ERepo: CA2573051035/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978953del , CM000674.2:g.120978953del GRCh38
NC_000012.11:g.121416756del , CM000674.1:g.121416756del GRCh37
NC_000012.10:g.119901139del NCBI36
NG_011731.2:g.5208del , LRG_522:g.5208del

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.185del ENSP00000453965.2:p.Asn62MetfsTer?
ENST00000257555.11:c.185del MANE Select ENSP00000257555.5:p.Asn62MetfsTer?
ENST00000257555.10:c.185del ENSP00000257555.4:p.Asn62MetfsTer?
ENST00000400024.6:c.185del ENSP00000476181.1:p.Asn62MetfsTer?
ENST00000402929.5:n.320del
ENST00000535955.5:n.42+261del
ENST00000538626.2:n.190+113del
ENST00000538646.5:c.185del ENSP00000443964.1:p.Asn62MetfsTer?
ENST00000540108.1:c.185del ENSP00000445445.1:p.Asn62MetfsTer?
ENST00000541395.5:c.185del ENSP00000443112.1:p.Asn62MetfsTer?
ENST00000541924.5:c.185del ENSP00000440361.1:p.Asn62MetfsTer?
ENST00000543427.5:c.185del ENSP00000439721.2:p.Asn62MetfsTer?
ENST00000544413.2:c.185del ENSP00000438804.1:p.Asn62MetfsTer?
ENST00000544574.5:c.72+113del ENSP00000438565.1:n.72+113del
ENST00000560968.5:c.328del
ENST00000615446.4:c.-258+242del ENSP00000483994.1:n.-258+242del
ENST00000617366.4:c.185del ENSP00000481967.1:p.Asn62MetfsTer?
NM_000545.5:c.185del , LRG_522t1:c.185del NP_000536.5:p.Asn62MetfsTer?
NM_000545.6:c.185del NP_000536.5:p.Asn62MetfsTer?
NM_001306179.1:c.185del NP_001293108.1:p.Asn62MetfsTer?
XM_005253931.2:c.185del XP_005253988.1:p.Asn62MetfsTer?
XM_024449168.1:c.185del XP_024304936.1:p.Asn62MetfsTer?
NM_000545.8:c.185del MANE Select NP_000536.6:p.Asn62MetfsTer?
NM_001306179.2:c.185del NP_001293108.2:p.Asn62MetfsTer?
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