Canonical Allele Identifier: CA607887184

Gene: HNF1A

Linked Data

• dbSNP Id: rs1411526015
• gnomAD v2: 12-121426921-TCC-T
• gnomAD v3: 12-120989118-TCC-T
• gnomAD v4: 12-120989118-TCC-T
• MyVariant Identifiers: chr12:g.121426922_121426923del (hg19) ; chr12:g.120989119_120989120del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120989121_120989122del , CM000674.2:g.120989121_120989122del	GRCh38
NC_000012.11:g.121426924_121426925del , CM000674.1:g.121426924_121426925del	GRCh37
NC_000012.10:g.119911307_119911308del	NCBI36
NG_011731.2:g.15376_15377del , LRG_522:g.15376_15377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.526+89_526+90del	ENSP00000453965.2:n.526+89_526+90del
ENST00000257555.11:c.526+89_526+90del MANE Select	ENSP00000257555.5:n.526+89_526+90del
ENST00000257555.10:c.526+89_526+90del	ENSP00000257555.4:n.526+89_526+90del
ENST00000400024.6:c.526+89_526+90del	ENSP00000476181.1:n.526+89_526+90del
ENST00000402929.5:n.661+89_661+90del
ENST00000535955.5:n.43-8370_43-8369del
ENST00000538626.2:n.191-8370_191-8369del
ENST00000538646.5:c.526+89_526+90del	ENSP00000443964.1:n.526+89_526+90del
ENST00000540108.1:c.327-4399_327-4398del	ENSP00000445445.1:n.327-4399_327-4398del
ENST00000541395.5:c.526+89_526+90del	ENSP00000443112.1:n.526+89_526+90del
ENST00000541924.5:c.526+89_526+90del	ENSP00000440361.1:n.526+89_526+90del
ENST00000543427.5:c.526+89_526+90del	ENSP00000439721.2:n.526+89_526+90del
ENST00000544413.2:c.526+89_526+90del	ENSP00000438804.1:n.526+89_526+90del
ENST00000544574.5:c.73-7496_73-7495del	ENSP00000438565.1:n.73-7496_73-7495del
ENST00000560968.5:c.669+89_669+90del
ENST00000615446.4:c.-257-7141_-257-7140del	ENSP00000483994.1:n.-257-7141_-257-7140del
ENST00000617366.4:c.526+89_526+90del	ENSP00000481967.1:n.526+89_526+90del
NM_000545.5:c.526+89_526+90del , LRG_522t1:c.526+89_526+90del	NP_000536.5:n.526+89_526+90del
NM_000545.6:c.526+89_526+90del	NP_000536.5:n.526+89_526+90del
NM_001306179.1:c.526+89_526+90del	NP_001293108.1:n.526+89_526+90del
XM_005253931.2:c.526+89_526+90del	XP_005253988.1:n.526+89_526+90del
XM_024449168.1:c.526+89_526+90del	XP_024304936.1:n.526+89_526+90del
NM_000545.8:c.526+89_526+90del MANE Select	NP_000536.6:n.526+89_526+90del
NM_001306179.2:c.526+89_526+90del	NP_001293108.2:n.526+89_526+90del