Canonical Allele Identifier: CA608060246

Gene: HNF1A

Linked Data

• dbSNP Id: rs1334863216
• gnomAD v2: 12-121434259-CTT-C
• gnomAD v3: 12-120996456-CTT-C
• gnomAD v4: 12-120996456-CTT-C
• MyVariant Identifiers: chr12:g.121434260_121434261del (hg19) ; chr12:g.120996457_120996458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996457_120996458del , CM000674.2:g.120996457_120996458del	GRCh38
NC_000012.11:g.121434260_121434261del , CM000674.1:g.121434260_121434261del	GRCh37
NC_000012.10:g.119918643_119918644del	NCBI36
NG_011731.2:g.22712_22713del , LRG_522:g.22712_22713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.781+44_781+45del	ENSP00000453965.2:n.781+44_781+45del
ENST00000257555.11:c.1107+44_1107+45del MANE Select	ENSP00000257555.5:n.1107+44_1107+45del
ENST00000257555.10:c.1107+44_1107+45del	ENSP00000257555.4:n.1107+44_1107+45del
ENST00000400024.6:c.1107+44_1107+45del	ENSP00000476181.1:n.1107+44_1107+45del
ENST00000402929.5:n.1242+44_1242+45del
ENST00000535955.5:n.43-1034_43-1033del
ENST00000538626.2:n.191-1034_191-1033del
ENST00000538646.5:c.*83+44_*83+45del	ENSP00000443964.1:n.*83+44_*83+45del
ENST00000540108.1:c.*547+44_*547+45del	ENSP00000445445.1:n.*547+44_*547+45del
ENST00000541395.5:c.1107+44_1107+45del	ENSP00000443112.1:n.1107+44_1107+45del
ENST00000541924.5:c.*121+44_*121+45del	ENSP00000440361.1:n.*121+44_*121+45del
ENST00000543255.1:n.68_69del
ENST00000543427.5:c.634-147_634-146del	ENSP00000439721.2:n.634-147_634-146del
ENST00000544413.2:c.1107+44_1107+45del	ENSP00000438804.1:n.1107+44_1107+45del
ENST00000544574.5:c.73-160_73-159del	ENSP00000438565.1:n.73-160_73-159del
ENST00000560968.5:c.924+44_924+45del
ENST00000615446.4:c.-106+44_-106+45del	ENSP00000483994.1:n.-106+44_-106+45del
ENST00000617366.4:c.587-1177_587-1176del	ENSP00000481967.1:n.587-1177_587-1176del
NM_000545.5:c.1107+44_1107+45del , LRG_522t1:c.1107+44_1107+45del	NP_000536.5:n.1107+44_1107+45del
NM_000545.6:c.1107+44_1107+45del	NP_000536.5:n.1107+44_1107+45del
NM_001306179.1:c.1107+44_1107+45del	NP_001293108.1:n.1107+44_1107+45del
XM_005253931.2:c.1107+44_1107+45del	XP_005253988.1:n.1107+44_1107+45del
XM_024449168.1:c.1107+44_1107+45del	XP_024304936.1:n.1107+44_1107+45del
NM_000545.8:c.1107+44_1107+45del MANE Select	NP_000536.6:n.1107+44_1107+45del
NM_001306179.2:c.1107+44_1107+45del	NP_001293108.2:n.1107+44_1107+45del