Canonical Allele Identifier: CA2573051041
Community Standard Title: NM_000545.8(HNF1A):c.1772_1773del (p.Ser591PhefsTer?)
Gene: HNF1A HGNC NCBI
C12orf43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121001068_121001069del , CM000674.2:g.121001068_121001069del GRCh38
NC_000012.11:g.121438871_121438872del , CM000674.1:g.121438871_121438872del GRCh37
NC_000012.10:g.119923254_119923255del NCBI36
NG_011731.2:g.27323_27324del , LRG_522:g.27323_27324del

Transcript Alleles

HGVS Amino-acid Change
NM_000545.8:c.1772_1773del (HNF1A) MANE Select NP_000536.6:p.Ser591PhefsTer?
NM_022895.3:c.*3084_*3085del (C12orf43) MANE Select NP_075046.1:n.*3084_*3085del
ENST00000257555.11:c.1772_1773del (HNF1A) MANE Select ENSP00000257555.5:p.Ser591PhefsTer?
ENST00000288757.7:c.*3084_*3085del (C12orf43) MANE Select ENSP00000288757.5:n.*3084_*3085del
NM_000545.5:c.1772_1773del , LRG_522t1:c.1772_1773del (HNF1A) NP_000536.5:p.Ser591PhefsTer?
NM_000545.6:c.1772_1773del (HNF1A) NP_000536.5:p.Ser591PhefsTer?
NM_001286191.2:c.*3084_*3085del (C12orf43) NP_001273120.1:n.*3084_*3085del
NM_001286196.2:c.*3084_*3085del (C12orf43) NP_001273125.1:n.*3084_*3085del
NM_001306179.1:c.1793_1794del (HNF1A) NP_001293108.1:p.Ser598PhefsTer?
NM_001306179.2:c.1793_1794del (HNF1A) NP_001293108.2:p.Ser598PhefsTer?
ENST00000257555.10:c.1772_1773del (HNF1A) ENSP00000257555.4:p.Ser591PhefsTer?
ENST00000540108.1:c.*1212_*1213del (HNF1A) ENSP00000445445.1:n.*1212_*1213del
ENST00000541395.5:c.1865_1866del (HNF1A) ENSP00000443112.1:p.Ser622PhefsTer?
ENST00000543427.5:c.1235_1236del (HNF1A) ENSP00000439721.2:p.Ser412PhefsTer?
ENST00000544413.2:c.1793_1794del (HNF1A) ENSP00000438804.1:p.Ser598PhefsTer?
ENST00000560968.5:c.1589_1590del (HNF1A)
ENST00000560968.6:c.*519_*520del (HNF1A) ENSP00000453965.2:n.*519_*520del
ENST00000615446.4:c.560_561del (HNF1A) ENSP00000483994.1:p.Ser187PhefsTer?
ENST00000617366.4:c.*181_*182del (HNF1A) ENSP00000481967.1:n.*181_*182del
XM_005253931.2:c.1865_1866del (HNF1A) XP_005253988.1:p.Ser622PhefsTer?
XM_024449168.1:c.1865_1866del (HNF1A) XP_024304936.1:p.Ser622PhefsTer?