Canonical Allele Identifier: CA2067683413

Gene: HNF1A

Linked Data

• dbSNP Id: rs1877104007
• gnomAD v4: 12-120996486-GGGAGGCCCTGTGGGGACCCCGGCCCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996490_120996517del , CM000674.2:g.120996490_120996517del	GRCh38
NC_000012.11:g.121434293_121434320del , CM000674.1:g.121434293_121434320del	GRCh37
NC_000012.10:g.119918676_119918703del	NCBI36
NG_011731.2:g.22745_22772del , LRG_522:g.22745_22772del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.782-51_782-24del	ENSP00000453965.2:n.782-51_782-24del
ENST00000257555.11:c.1108-51_1108-24del MANE Select	ENSP00000257555.5:n.1108-51_1108-24del
ENST00000257555.10:c.1108-51_1108-24del	ENSP00000257555.4:n.1108-51_1108-24del
ENST00000400024.6:c.1108-51_1108-24del	ENSP00000476181.1:n.1108-51_1108-24del
ENST00000402929.5:n.1243-51_1243-24del
ENST00000535955.5:n.43-1001_43-974del
ENST00000538626.2:n.191-1001_191-974del
ENST00000538646.5:c.*84-51_*84-24del	ENSP00000443964.1:n.*84-51_*84-24del
ENST00000540108.1:c.*548-51_*548-24del	ENSP00000445445.1:n.*548-51_*548-24del
ENST00000541395.5:c.1108-51_1108-24del	ENSP00000443112.1:n.1108-51_1108-24del
ENST00000541924.5:c.*122-51_*122-24del	ENSP00000440361.1:n.*122-51_*122-24del
ENST00000543255.1:n.101_128del
ENST00000543427.5:c.634-114_634-87del	ENSP00000439721.2:n.634-114_634-87del
ENST00000544413.2:c.1108-51_1108-24del	ENSP00000438804.1:n.1108-51_1108-24del
ENST00000544574.5:c.73-127_73-100del	ENSP00000438565.1:n.73-127_73-100del
ENST00000560968.5:c.925-51_925-24del
ENST00000615446.4:c.-105-51_-105-24del	ENSP00000483994.1:n.-105-51_-105-24del
ENST00000617366.4:c.587-1144_587-1117del	ENSP00000481967.1:n.587-1144_587-1117del
NM_000545.5:c.1108-51_1108-24del , LRG_522t1:c.1108-51_1108-24del	NP_000536.5:n.1108-51_1108-24del
NM_000545.6:c.1108-51_1108-24del	NP_000536.5:n.1108-51_1108-24del
NM_001306179.1:c.1108-51_1108-24del	NP_001293108.1:n.1108-51_1108-24del
XM_005253931.2:c.1108-51_1108-24del	XP_005253988.1:n.1108-51_1108-24del
XM_024449168.1:c.1108-51_1108-24del	XP_024304936.1:n.1108-51_1108-24del
NM_000545.8:c.1108-51_1108-24del MANE Select	NP_000536.6:n.1108-51_1108-24del
NM_001306179.2:c.1108-51_1108-24del	NP_001293108.2:n.1108-51_1108-24del