Canonical Allele Identifier: CA684444489

Gene: HNF1A

Linked Data

• dbSNP Id: rs1252714026
• MyVariant Identifiers: chr12:g.121420547_121420548del (hg19) ; chr12:g.120982744_120982745del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120982746_120982747del , CM000674.2:g.120982746_120982747del	GRCh38
NC_000012.11:g.121420549_121420550del , CM000674.1:g.121420549_121420550del	GRCh37
NC_000012.10:g.119904932_119904933del	NCBI36
NG_011731.2:g.9001_9002del , LRG_522:g.9001_9002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.326+3652_326+3653del	ENSP00000453965.2:n.326+3652_326+3653del
ENST00000257555.11:c.326+3652_326+3653del MANE Select	ENSP00000257555.5:n.326+3652_326+3653del
ENST00000257555.10:c.326+3652_326+3653del	ENSP00000257555.4:n.326+3652_326+3653del
ENST00000400024.6:c.326+3652_326+3653del	ENSP00000476181.1:n.326+3652_326+3653del
ENST00000402929.5:n.461+3652_461+3653del
ENST00000535955.5:n.42+4054_42+4055del
ENST00000538626.2:n.190+3906_190+3907del
ENST00000538646.5:c.326+3652_326+3653del	ENSP00000443964.1:n.326+3652_326+3653del
ENST00000540108.1:c.326+3652_326+3653del	ENSP00000445445.1:n.326+3652_326+3653del
ENST00000541395.5:c.326+3652_326+3653del	ENSP00000443112.1:n.326+3652_326+3653del
ENST00000541924.5:c.326+3652_326+3653del	ENSP00000440361.1:n.326+3652_326+3653del
ENST00000543427.5:c.326+3652_326+3653del	ENSP00000439721.2:n.326+3652_326+3653del
ENST00000544413.2:c.326+3652_326+3653del	ENSP00000438804.1:n.326+3652_326+3653del
ENST00000544574.5:c.72+3906_72+3907del	ENSP00000438565.1:n.72+3906_72+3907del
ENST00000560968.5:c.469+3652_469+3653del
ENST00000615446.4:c.-258+4035_-258+4036del	ENSP00000483994.1:n.-258+4035_-258+4036del
ENST00000617366.4:c.326+3652_326+3653del	ENSP00000481967.1:n.326+3652_326+3653del
NM_000545.5:c.326+3652_326+3653del , LRG_522t1:c.326+3652_326+3653del	NP_000536.5:n.326+3652_326+3653del
NM_000545.6:c.326+3652_326+3653del	NP_000536.5:n.326+3652_326+3653del
NM_001306179.1:c.326+3652_326+3653del	NP_001293108.1:n.326+3652_326+3653del
XM_005253931.2:c.326+3652_326+3653del	XP_005253988.1:n.326+3652_326+3653del
XM_024449168.1:c.326+3652_326+3653del	XP_024304936.1:n.326+3652_326+3653del
NM_000545.8:c.326+3652_326+3653del MANE Select	NP_000536.6:n.326+3652_326+3653del
NM_001306179.2:c.326+3652_326+3653del	NP_001293108.2:n.326+3652_326+3653del