Canonical Allele Identifier: CA214310
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 36823
ClinVar RCV Id: RCV000030504 RCV002250356 RCV002319432
dbSNP Id: rs386134267
MyVariant Identifiers: chr12:g.121426827_121426872del (hg19) chr12:g.120989024_120989069del (hg38)
ERepo: CA214310/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120989024_120989069del , CM000674.2:g.120989024_120989069del GRCh38
NC_000012.11:g.121426827_121426872del , CM000674.1:g.121426827_121426872del GRCh37
NC_000012.10:g.119911210_119911255del NCBI36
NG_011731.2:g.15279_15324del , LRG_522:g.15279_15324del

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.518_526+37del
ENST00000257555.11:c.518_526+37del
ENST00000257555.10:c.518_526+37del
ENST00000400024.6:c.518_526+37del
ENST00000402929.5:n.653_661+37del
ENST00000535955.5:n.43-8467_43-8422del
ENST00000538626.2:n.191-8467_191-8422del
ENST00000538646.5:c.518_526+37del
ENST00000540108.1:c.327-4496_327-4451del ENSP00000445445.1:n.327-4496_327-4451del
ENST00000541395.5:c.518_526+37del
ENST00000541924.5:c.518_526+37del
ENST00000543427.5:c.518_526+37del
ENST00000544413.2:c.518_526+37del
ENST00000544574.5:c.73-7593_73-7548del ENSP00000438565.1:n.73-7593_73-7548del
ENST00000560968.5:c.661_669+37del
ENST00000615446.4:c.-257-7238_-257-7193del ENSP00000483994.1:n.-257-7238_-257-7193de...
ENST00000617366.4:c.518_526+37del
NM_000545.5:c.518_526+37del , LRG_522t1:c.518_526+37del
NM_000545.6:c.518_526+37del
NM_001306179.1:c.518_526+37del
XM_005253931.2:c.518_526+37del
XM_024449168.1:c.518_526+37del
NM_000545.8:c.518_526+37del
NM_001306179.2:c.518_526+37del
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