Canonical Allele Identifier: CA2697551551

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 2775406
• ClinVar RCV Id: RCV003577091

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999380_120999383del , CM000674.2:g.120999380_120999383del	GRCh38
NC_000012.11:g.121437183_121437186del , CM000674.1:g.121437183_121437186del	GRCh37
NC_000012.10:g.119921566_119921569del	NCBI36
NG_011731.2:g.25635_25638del , LRG_522:g.25635_25638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*361_*364del	ENSP00000453965.2:n.*361_*364del
ENST00000257555.11:c.1614_1617del MANE Select	ENSP00000257555.5:p.Thr539SerfsTer?
ENST00000257555.10:c.1614_1617del	ENSP00000257555.4:p.Thr539SerfsTer?
ENST00000540108.1:c.*1054_*1057del	ENSP00000445445.1:n.*1054_*1057del
ENST00000541395.5:c.1614_1617del	ENSP00000443112.1:p.Thr539SerfsTer3
ENST00000543427.5:c.1077_1080del	ENSP00000439721.2:p.Thr360SerfsTer?
ENST00000544413.2:c.1614_1617del	ENSP00000438804.1:p.Thr539SerfsTer?
ENST00000560968.5:c.1431_1434del
ENST00000615446.4:c.402_405del	ENSP00000483994.1:p.Thr135SerfsTer?
ENST00000617366.4:c.*23_*26del	ENSP00000481967.1:n.*23_*26del
NM_000545.5:c.1614_1617del , LRG_522t1:c.1614_1617del	NP_000536.5:p.Thr539SerfsTer?
NM_000545.6:c.1614_1617del	NP_000536.5:p.Thr539SerfsTer?
NM_001306179.1:c.1614_1617del	NP_001293108.1:p.Thr539SerfsTer?
XM_005253931.2:c.1614_1617del	XP_005253988.1:p.Thr539SerfsTer3
XM_024449168.1:c.1614_1617del	XP_024304936.1:p.Thr539SerfsTer3
NM_000545.8:c.1614_1617del MANE Select	NP_000536.6:p.Thr539SerfsTer?
NM_001306179.2:c.1614_1617del	NP_001293108.2:p.Thr539SerfsTer?