Canonical Allele Identifier: CA214284

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 36809
• ClinVar RCV Id: RCV000030489 ; RCV002222003 ; RCV002326703
• dbSNP Id: rs193922588
• MyVariant Identifiers: chr12:g.121416740del (hg19) ; chr12:g.120978937del (hg38)
• ERepo: CA214284/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120978937del , CM000674.2:g.120978937del	GRCh38
NC_000012.11:g.121416740del , CM000674.1:g.121416740del	GRCh37
NC_000012.10:g.119901123del	NCBI36
NG_011731.2:g.5192del , LRG_522:g.5192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.169del	ENSP00000453965.2:p.Leu57TrpfsTer?
ENST00000257555.11:c.169del MANE Select	ENSP00000257555.5:p.Leu57TrpfsTer?
ENST00000257555.10:c.169del	ENSP00000257555.4:p.Leu57TrpfsTer?
ENST00000400024.6:c.169del	ENSP00000476181.1:p.Leu57TrpfsTer?
ENST00000402929.5:n.304del
ENST00000535955.5:n.42+245del
ENST00000538626.2:n.190+97del
ENST00000538646.5:c.169del	ENSP00000443964.1:p.Leu57TrpfsTer?
ENST00000540108.1:c.169del	ENSP00000445445.1:p.Leu57TrpfsTer?
ENST00000541395.5:c.169del	ENSP00000443112.1:p.Leu57TrpfsTer?
ENST00000541924.5:c.169del	ENSP00000440361.1:p.Leu57TrpfsTer?
ENST00000543427.5:c.169del	ENSP00000439721.2:p.Leu57TrpfsTer?
ENST00000544413.2:c.169del	ENSP00000438804.1:p.Leu57TrpfsTer?
ENST00000544574.5:c.72+97del	ENSP00000438565.1:n.72+97del
ENST00000560968.5:c.312del
ENST00000615446.4:c.-258+226del	ENSP00000483994.1:n.-258+226del
ENST00000617366.4:c.169del	ENSP00000481967.1:p.Leu57TrpfsTer?
NM_000545.5:c.169del , LRG_522t1:c.169del	NP_000536.5:p.Leu57TrpfsTer?
NM_000545.6:c.169del	NP_000536.5:p.Leu57TrpfsTer?
NM_001306179.1:c.169del	NP_001293108.1:p.Leu57TrpfsTer?
XM_005253931.2:c.169del	XP_005253988.1:p.Leu57TrpfsTer?
XM_024449168.1:c.169del	XP_024304936.1:p.Leu57TrpfsTer?
NM_000545.8:c.169del MANE Select	NP_000536.6:p.Leu57TrpfsTer?
NM_001306179.2:c.169del	NP_001293108.2:p.Leu57TrpfsTer?