Canonical Allele Identifier: CA2740097584

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 3052987
• ClinVar RCV Id: RCV003971685

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993687_120993689delinsGG , CM000674.2:g.120993687_120993689delinsGG	GRCh38
NC_000012.11:g.121431490_121431492delinsGG , CM000674.1:g.121431490_121431492delinsGG	GRCh37
NC_000012.10:g.119915873_119915875delinsGG	NCBI36
NG_011731.2:g.19942_19944delinsGG , LRG_522:g.19942_19944delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.694_696delinsGG	ENSP00000453965.2:p.Leu232GlyfsTer?
ENST00000257555.11:c.694_696delinsGG MANE Select	ENSP00000257555.5:p.Leu232GlyfsTer?
ENST00000257555.10:c.694_696delinsGG	ENSP00000257555.4:p.Leu232GlyfsTer?
ENST00000400024.6:c.694_696delinsGG	ENSP00000476181.1:p.Leu232GlyfsTer?
ENST00000402929.5:n.829_831delinsGG
ENST00000535955.5:n.43-3804_43-3802delinsGG
ENST00000538626.2:n.191-3804_191-3802delinsGG
ENST00000538646.5:c.527-477_527-475delinsGG	ENSP00000443964.1:n.527-477_527-475delinsGG
ENST00000540108.1:c.*134_*136delinsGG	ENSP00000445445.1:n.*134_*136delinsGG
ENST00000541395.5:c.694_696delinsGG	ENSP00000443112.1:p.Leu232GlyfsTer?
ENST00000541924.5:c.694_696delinsGG	ENSP00000440361.1:p.Leu232GlyfsTer?
ENST00000543427.5:c.633+61_633+63delinsGG	ENSP00000439721.2:n.633+61_633+63delinsGG
ENST00000544413.2:c.694_696delinsGG	ENSP00000438804.1:p.Leu232GlyfsTer?
ENST00000544574.5:c.73-2930_73-2928delinsGG	ENSP00000438565.1:n.73-2930_73-2928delinsGG
ENST00000560968.5:c.837_839delinsGG
ENST00000615446.4:c.-257-2575_-257-2573delinsGG	ENSP00000483994.1:n.-257-2575_-257-2573delinsGG
ENST00000617366.4:c.586+108_586+110delinsGG	ENSP00000481967.1:n.586+108_586+110delinsGG
NM_000545.5:c.694_696delinsGG , LRG_522t1:c.694_696delinsGG	NP_000536.5:p.Leu232GlyfsTer?
NM_000545.6:c.694_696delinsGG	NP_000536.5:p.Leu232GlyfsTer?
NM_001306179.1:c.694_696delinsGG	NP_001293108.1:p.Leu232GlyfsTer?
XM_005253931.2:c.694_696delinsGG	XP_005253988.1:p.Leu232GlyfsTer?
XM_024449168.1:c.694_696delinsGG	XP_024304936.1:p.Leu232GlyfsTer?
NM_000545.8:c.694_696delinsGG MANE Select	NP_000536.6:p.Leu232GlyfsTer?
NM_001306179.2:c.694_696delinsGG	NP_001293108.2:p.Leu232GlyfsTer?