Canonical Allele Identifier: CA684452292

Gene: HNF1A

Linked Data

• dbSNP Id: rs1486104670
• gnomAD v3: 12-120993242-AGTCTTG-A
• gnomAD v4: 12-120993242-AGTCTTG-A
• MyVariant Identifiers: chr12:g.121431046_121431051del (hg19) ; chr12:g.120993243_120993248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993243_120993248del , CM000674.2:g.120993243_120993248del	GRCh38
NC_000012.11:g.121431046_121431051del , CM000674.1:g.121431046_121431051del	GRCh37
NC_000012.10:g.119915429_119915434del	NCBI36
NG_011731.2:g.19498_19503del , LRG_522:g.19498_19503del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.527-277_527-272del	ENSP00000453965.2:n.527-277_527-272del
ENST00000257555.11:c.527-277_527-272del MANE Select	ENSP00000257555.5:n.527-277_527-272del
ENST00000257555.10:c.527-277_527-272del	ENSP00000257555.4:n.527-277_527-272del
ENST00000400024.6:c.527-277_527-272del	ENSP00000476181.1:n.527-277_527-272del
ENST00000402929.5:n.662-277_662-272del
ENST00000535955.5:n.43-4248_43-4243del
ENST00000538626.2:n.191-4248_191-4243del
ENST00000538646.5:c.527-921_527-916del	ENSP00000443964.1:n.527-921_527-916del
ENST00000540108.1:c.327-277_327-272del	ENSP00000445445.1:n.327-277_327-272del
ENST00000541395.5:c.527-277_527-272del	ENSP00000443112.1:n.527-277_527-272del
ENST00000541924.5:c.527-277_527-272del	ENSP00000440361.1:n.527-277_527-272del
ENST00000543427.5:c.527-277_527-272del	ENSP00000439721.2:n.527-277_527-272del
ENST00000544413.2:c.527-277_527-272del	ENSP00000438804.1:n.527-277_527-272del
ENST00000544574.5:c.73-3374_73-3369del	ENSP00000438565.1:n.73-3374_73-3369del
ENST00000560968.5:c.670-277_670-272del
ENST00000615446.4:c.-257-3019_-257-3014del	ENSP00000483994.1:n.-257-3019_-257-3014del
ENST00000617366.4:c.527-277_527-272del	ENSP00000481967.1:n.527-277_527-272del
NM_000545.5:c.527-277_527-272del , LRG_522t1:c.527-277_527-272del	NP_000536.5:n.527-277_527-272del
NM_000545.6:c.527-277_527-272del	NP_000536.5:n.527-277_527-272del
NM_001306179.1:c.527-277_527-272del	NP_001293108.1:n.527-277_527-272del
XM_005253931.2:c.527-277_527-272del	XP_005253988.1:n.527-277_527-272del
XM_024449168.1:c.527-277_527-272del	XP_024304936.1:n.527-277_527-272del
NM_000545.8:c.527-277_527-272del MANE Select	NP_000536.6:n.527-277_527-272del
NM_001306179.2:c.527-277_527-272del	NP_001293108.2:n.527-277_527-272del