Canonical Allele Identifier: CA6831877
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs752141928
ExAC: 12:121432260 AG / A
gnomAD v2: 12-121432260-AG-A
gnomAD v3: 12-120994457-AG-A
gnomAD v4: 12-120994457-AG-A
MyVariant Identifiers: chr12:g.121432261del (hg19) chr12:g.120994459del (hg38) chr12:g.120994458del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994459del , CM000674.2:g.120994459del GRCh38
NC_000012.11:g.121432262del , CM000674.1:g.121432262del GRCh37
NC_000012.10:g.119916645del NCBI36
NG_011731.2:g.20714del , LRG_522:g.20714del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+259del ENSP00000453965.2:n.750+259del
ENST00000257555.11:c.955+54del MANE Select ENSP00000257555.5:n.955+54del
ENST00000257555.10:c.955+54del ENSP00000257555.4:n.955+54del
ENST00000400024.6:c.955+54del ENSP00000476181.1:n.955+54del
ENST00000402929.5:n.1090+54del
ENST00000535955.5:n.43-3032del
ENST00000538626.2:n.191-3032del
ENST00000538646.5:c.768+54del ENSP00000443964.1:n.768+54del
ENST00000540108.1:c.*395+54del ENSP00000445445.1:n.*395+54del
ENST00000541395.5:c.955+54del ENSP00000443112.1:n.955+54del
ENST00000541924.5:c.713+753del ENSP00000440361.1:n.713+753del
ENST00000543427.5:c.633+833del ENSP00000439721.2:n.633+833del
ENST00000544413.2:c.955+54del ENSP00000438804.1:n.955+54del
ENST00000544574.5:c.73-2158del ENSP00000438565.1:n.73-2158del
ENST00000560968.5:c.893+259del
ENST00000615446.4:c.-257-1803del ENSP00000483994.1:n.-257-1803del
ENST00000617366.4:c.586+880del ENSP00000481967.1:n.586+880del
NM_000545.5:c.955+54del , LRG_522t1:c.955+54del NP_000536.5:n.955+54del
NM_000545.6:c.955+54del NP_000536.5:n.955+54del
NM_001306179.1:c.955+54del NP_001293108.1:n.955+54del
XM_005253931.2:c.955+54del XP_005253988.1:n.955+54del
XM_024449168.1:c.955+54del XP_024304936.1:n.955+54del
NM_000545.8:c.955+54del MANE Select NP_000536.6:n.955+54del
NM_001306179.2:c.955+54del NP_001293108.2:n.955+54del
Search 100 bp 5'
Search 100 bp 3'