Canonical Allele Identifier: CA645587996

Gene: HNF1A

Linked Data

• COSMIC: COSM24925 ; COSM3666556

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994197_120994214del , CM000674.2:g.120994197_120994214del	GRCh38
NC_000012.11:g.121432000_121432017del , CM000674.1:g.121432000_121432017del	GRCh37
NC_000012.10:g.119916383_119916400del	NCBI36
NG_011731.2:g.20452_20469del , LRG_522:g.20452_20469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.747_750+14del
ENST00000257555.11:c.747_764del MANE Select	ENSP00000257555.5:p.Gln250_Gly255del
ENST00000257555.10:c.747_764del	ENSP00000257555.4:p.Gln250_Gly255del
ENST00000400024.6:c.747_764del	ENSP00000476181.1:p.Gln250_Gly255del
ENST00000402929.5:n.882_899del
ENST00000535955.5:n.43-3294_43-3277del
ENST00000538626.2:n.191-3294_191-3277del
ENST00000538646.5:c.560_577del	ENSP00000443964.1:p.His187_Ala193delinsPro
ENST00000540108.1:c.*187_*204del	ENSP00000445445.1:n.*187_*204del
ENST00000541395.5:c.747_764del	ENSP00000443112.1:p.Gln250_Gly255del
ENST00000541924.5:c.713+491_713+508del	ENSP00000440361.1:n.713+491_713+508del
ENST00000543427.5:c.633+571_633+588del	ENSP00000439721.2:n.633+571_633+588del
ENST00000544413.2:c.747_764del	ENSP00000438804.1:p.Gln250_Gly255del
ENST00000544574.5:c.73-2420_73-2403del	ENSP00000438565.1:n.73-2420_73-2403del
ENST00000560968.5:c.890_893+14del
ENST00000615446.4:c.-257-2065_-257-2048del	ENSP00000483994.1:n.-257-2065_-257-2048del
ENST00000617366.4:c.586+618_586+635del	ENSP00000481967.1:n.586+618_586+635del
NM_000545.5:c.747_764del , LRG_522t1:c.747_764del	NP_000536.5:p.Gln250_Gly255del
NM_000545.6:c.747_764del	NP_000536.5:p.Gln250_Gly255del
NM_001306179.1:c.747_764del	NP_001293108.1:p.Gln250_Gly255del
XM_005253931.2:c.747_764del	XP_005253988.1:p.Gln250_Gly255del
XM_024449168.1:c.747_764del	XP_024304936.1:p.Gln250_Gly255del
NM_000545.8:c.747_764del MANE Select	NP_000536.6:p.Gln250_Gly255del
NM_001306179.2:c.747_764del	NP_001293108.2:p.Gln250_Gly255del