Canonical Allele Identifier: CA2621391133

Gene: HNF1A

Linked Data

• gnomAD v4: 12-120997602-GTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997612_120997659del , CM000674.2:g.120997612_120997659del	GRCh38
NC_000012.11:g.121435415_121435462del , CM000674.1:g.121435415_121435462del	GRCh37
NC_000012.10:g.119919798_119919845del	NCBI36
NG_011731.2:g.23867_23914del , LRG_522:g.23867_23914del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*195_*242del	ENSP00000453965.2:n.*195_*242del
ENST00000257555.11:c.1448_1495del MANE Select	ENSP00000257555.5:p.His483_Ser498del
ENST00000257555.10:c.1448_1495del	ENSP00000257555.4:p.His483_Ser498del
ENST00000400024.6:c.1448_1495del	ENSP00000476181.1:p.His483_Ser498del
ENST00000402929.5:n.2314_2361del
ENST00000535955.5:n.164_211del
ENST00000538626.2:n.312_359del
ENST00000538646.5:c.*424_*471del	ENSP00000443964.1:n.*424_*471del
ENST00000540108.1:c.*888_*935del	ENSP00000445445.1:n.*888_*935del
ENST00000541395.5:c.1448_1495del	ENSP00000443112.1:p.His483_Ser498del
ENST00000541924.5:c.*462_*509del	ENSP00000440361.1:n.*462_*509del
ENST00000543255.1:n.492_539del
ENST00000543427.5:c.911_958del	ENSP00000439721.2:p.His304_Ser319del
ENST00000544413.2:c.1448_1495del	ENSP00000438804.1:p.His483_Ser498del
ENST00000544574.5:c.*211_*258del	ENSP00000438565.1:n.*211_*258del
ENST00000560968.5:c.1265_1312del
ENST00000615446.4:c.236_283del	ENSP00000483994.1:p.His79_Ser94del
ENST00000617366.4:c.587-22_612del
NM_000545.5:c.1448_1495del , LRG_522t1:c.1448_1495del	NP_000536.5:p.His483_Ser498del
NM_000545.6:c.1448_1495del	NP_000536.5:p.His483_Ser498del
NM_001306179.1:c.1448_1495del	NP_001293108.1:p.His483_Ser498del
XM_005253931.2:c.1448_1495del	XP_005253988.1:p.His483_Ser498del
XM_024449168.1:c.1448_1495del	XP_024304936.1:p.His483_Ser498del
NM_000545.8:c.1448_1495del MANE Select	NP_000536.6:p.His483_Ser498del
NM_001306179.2:c.1448_1495del	NP_001293108.2:p.His483_Ser498del