Canonical Allele Identifier: CA2575321971

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 2502593
• ClinVar RCV Id: RCV003229266 ; RCV003317670
• gnomAD v4: 12-120996302-AGTACCCTCAAGCAGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996304_120996319del , CM000674.2:g.120996304_120996319del	GRCh38
NC_000012.11:g.121434107_121434122del , CM000674.1:g.121434107_121434122del	GRCh37
NC_000012.10:g.119918490_119918505del	NCBI36
NG_011731.2:g.22559_22574del , LRG_522:g.22559_22574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-79_751-64del	ENSP00000453965.2:n.751-79_751-64del
ENST00000257555.11:c.998_1013del MANE Select	ENSP00000257555.5:p.Val333AlafsTer4
ENST00000257555.10:c.998_1013del	ENSP00000257555.4:p.Val333AlafsTer4
ENST00000400024.6:c.998_1013del	ENSP00000476181.1:p.Val333AlafsTer4
ENST00000402929.5:n.1133_1148del
ENST00000535955.5:n.43-1187_43-1172del
ENST00000538626.2:n.191-1187_191-1172del
ENST00000538646.5:c.811_826del	ENSP00000443964.1:p.Tyr271ArgfsTer?
ENST00000540108.1:c.*438_*453del	ENSP00000445445.1:n.*438_*453del
ENST00000541395.5:c.998_1013del	ENSP00000443112.1:p.Val333AlafsTer4
ENST00000541924.5:c.*12_*27del	ENSP00000440361.1:n.*12_*27del
ENST00000543427.5:c.634-300_634-285del	ENSP00000439721.2:n.634-300_634-285del
ENST00000544413.2:c.998_1013del	ENSP00000438804.1:p.Val333AlafsTer4
ENST00000544574.5:c.73-313_73-298del	ENSP00000438565.1:n.73-313_73-298del
ENST00000560968.5:c.894-79_894-64del
ENST00000615446.4:c.-215_-200del	ENSP00000483994.1:n.-215_-200del
ENST00000617366.4:c.587-1330_587-1315del	ENSP00000481967.1:n.587-1330_587-1315del
NM_000545.5:c.998_1013del , LRG_522t1:c.998_1013del	NP_000536.5:p.Val333AlafsTer4
NM_000545.6:c.998_1013del	NP_000536.5:p.Val333AlafsTer4
NM_001306179.1:c.998_1013del	NP_001293108.1:p.Val333AlafsTer4
XM_005253931.2:c.998_1013del	XP_005253988.1:p.Val333AlafsTer4
XM_024449168.1:c.998_1013del	XP_024304936.1:p.Val333AlafsTer4
NM_000545.8:c.998_1013del MANE Select	NP_000536.6:p.Val333AlafsTer4
NM_001306179.2:c.998_1013del	NP_001293108.2:p.Val333AlafsTer4