Canonical Allele Identifier: CA645589503

Gene: HNF1A

Linked Data

• COSMIC: COSM290880

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120988902_120988903delinsAA , CM000674.2:g.120988902_120988903delinsAA	GRCh38
NC_000012.11:g.121426705_121426706delinsAA , CM000674.1:g.121426705_121426706delinsAA	GRCh37
NC_000012.10:g.119911088_119911089delinsAA	NCBI36
NG_011731.2:g.15157_15158delinsAA , LRG_522:g.15157_15158delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.396_397delinsAA	ENSP00000453965.2:p.Val133Met
ENST00000257555.11:c.396_397delinsAA MANE Select	ENSP00000257555.5:p.Val133Met
ENST00000257555.10:c.396_397delinsAA	ENSP00000257555.4:p.Val133Met
ENST00000400024.6:c.396_397delinsAA	ENSP00000476181.1:p.Val133Met
ENST00000402929.5:n.531_532delinsAA
ENST00000535955.5:n.43-8589_43-8588delinsAA
ENST00000538626.2:n.191-8589_191-8588delinsAA
ENST00000538646.5:c.396_397delinsAA	ENSP00000443964.1:p.Val133Met
ENST00000540108.1:c.327-4618_327-4617delinsAA	ENSP00000445445.1:n.327-4618_327-4617delinsAA
ENST00000541395.5:c.396_397delinsAA	ENSP00000443112.1:p.Val133Met
ENST00000541924.5:c.396_397delinsAA	ENSP00000440361.1:p.Val133Met
ENST00000543427.5:c.396_397delinsAA	ENSP00000439721.2:p.Val133Met
ENST00000544413.2:c.396_397delinsAA	ENSP00000438804.1:p.Val133Met
ENST00000544574.5:c.73-7715_73-7714delinsAA	ENSP00000438565.1:n.73-7715_73-7714delinsAA
ENST00000560968.5:c.539_540delinsAA
ENST00000615446.4:c.-257-7360_-257-7359delinsAA	ENSP00000483994.1:n.-257-7360_-257-7359delinsAA
ENST00000617366.4:c.396_397delinsAA	ENSP00000481967.1:p.Val133Met
NM_000545.5:c.396_397delinsAA , LRG_522t1:c.396_397delinsAA	NP_000536.5:p.Val133Met
NM_000545.6:c.396_397delinsAA	NP_000536.5:p.Val133Met
NM_001306179.1:c.396_397delinsAA	NP_001293108.1:p.Val133Met
XM_005253931.2:c.396_397delinsAA	XP_005253988.1:p.Val133Met
XM_024449168.1:c.396_397delinsAA	XP_024304936.1:p.Val133Met
NM_000545.8:c.396_397delinsAA MANE Select	NP_000536.6:p.Val133Met
NM_001306179.2:c.396_397delinsAA	NP_001293108.2:p.Val133Met