Canonical Allele Identifier: CA2797726239
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994388_120994389insT , CM000674.2:g.120994388_120994389insT GRCh38
NC_000012.11:g.121432191_121432192insT , CM000674.1:g.121432191_121432192insT GRCh37
NC_000012.10:g.119916574_119916575insT NCBI36
NG_011731.2:g.20643_20644insT , LRG_522:g.20643_20644insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+188_750+189insT ENSP00000453965.2:n.750+188_750+189insT
ENST00000257555.11:c.938_939insT MANE Select ENSP00000257555.5:p.Ser315GlnfsTer2
ENST00000257555.10:c.938_939insT ENSP00000257555.4:p.Ser315GlnfsTer2
ENST00000400024.6:c.938_939insT ENSP00000476181.1:p.Ser315GlnfsTer2
ENST00000402929.5:n.1073_1074insT
ENST00000535955.5:n.43-3103_43-3102insT
ENST00000538626.2:n.191-3103_191-3102insT
ENST00000538646.5:c.751_752insT ENSP00000443964.1:p.Pro251LeufsTer?
ENST00000540108.1:c.*378_*379insT ENSP00000445445.1:n.*378_*379insT
ENST00000541395.5:c.938_939insT ENSP00000443112.1:p.Ser315GlnfsTer2
ENST00000541924.5:c.713+682_713+683insT ENSP00000440361.1:n.713+682_713+683insT
ENST00000543427.5:c.633+762_633+763insT ENSP00000439721.2:n.633+762_633+763insT
ENST00000544413.2:c.938_939insT ENSP00000438804.1:p.Ser315GlnfsTer2
ENST00000544574.5:c.73-2229_73-2228insT ENSP00000438565.1:n.73-2229_73-2228insT
ENST00000560968.5:c.893+188_893+189insT
ENST00000615446.4:c.-257-1874_-257-1873insT ENSP00000483994.1:n.-257-1874_-257-1873insT
ENST00000617366.4:c.586+809_586+810insT ENSP00000481967.1:n.586+809_586+810insT
NM_000545.5:c.938_939insT , LRG_522t1:c.938_939insT NP_000536.5:p.Ser315GlnfsTer2
NM_000545.6:c.938_939insT NP_000536.5:p.Ser315GlnfsTer2
NM_001306179.1:c.938_939insT NP_001293108.1:p.Ser315GlnfsTer2
XM_005253931.2:c.938_939insT XP_005253988.1:p.Ser315GlnfsTer2
XM_024449168.1:c.938_939insT XP_024304936.1:p.Ser315GlnfsTer2
NM_000545.8:c.938_939insT MANE Select NP_000536.6:p.Ser315GlnfsTer2
NM_001306179.2:c.938_939insT NP_001293108.2:p.Ser315GlnfsTer2
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