Canonical Allele Identifier: CA2621384172

Gene: HNF1A

Linked Data

• gnomAD v4: 12-120996218-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996219del , CM000674.2:g.120996219del	GRCh38
NC_000012.11:g.121434022del , CM000674.1:g.121434022del	GRCh37
NC_000012.10:g.119918405del	NCBI36
NG_011731.2:g.22474del , LRG_522:g.22474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-164del	ENSP00000453965.2:n.751-164del
ENST00000257555.11:c.956-43del MANE Select	ENSP00000257555.5:n.956-43del
ENST00000257555.10:c.956-43del	ENSP00000257555.4:n.956-43del
ENST00000400024.6:c.956-43del	ENSP00000476181.1:n.956-43del
ENST00000402929.5:n.1091-43del
ENST00000535955.5:n.43-1272del
ENST00000538626.2:n.191-1272del
ENST00000538646.5:c.769-43del	ENSP00000443964.1:n.769-43del
ENST00000540108.1:c.*396-43del	ENSP00000445445.1:n.*396-43del
ENST00000541395.5:c.956-43del	ENSP00000443112.1:n.956-43del
ENST00000541924.5:c.714-43del	ENSP00000440361.1:n.714-43del
ENST00000543427.5:c.634-385del	ENSP00000439721.2:n.634-385del
ENST00000544413.2:c.956-43del	ENSP00000438804.1:n.956-43del
ENST00000544574.5:c.73-398del	ENSP00000438565.1:n.73-398del
ENST00000560968.5:c.894-164del
ENST00000615446.4:c.-257-43del	ENSP00000483994.1:n.-257-43del
ENST00000617366.4:c.587-1415del	ENSP00000481967.1:n.587-1415del
NM_000545.5:c.956-43del , LRG_522t1:c.956-43del	NP_000536.5:n.956-43del
NM_000545.6:c.956-43del	NP_000536.5:n.956-43del
NM_001306179.1:c.956-43del	NP_001293108.1:n.956-43del
XM_005253931.2:c.956-43del	XP_005253988.1:n.956-43del
XM_024449168.1:c.956-43del	XP_024304936.1:n.956-43del
NM_000545.8:c.956-43del MANE Select	NP_000536.6:n.956-43del
NM_001306179.2:c.956-43del	NP_001293108.2:n.956-43del