Canonical Allele Identifier: CA2695217501
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994394_120994395insA , CM000674.2:g.120994394_120994395insA GRCh38
NC_000012.11:g.121432197_121432198insA , CM000674.1:g.121432197_121432198insA GRCh37
NC_000012.10:g.119916580_119916581insA NCBI36
NG_011731.2:g.20649_20650insA , LRG_522:g.20649_20650insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+194_750+195insA ENSP00000453965.2:n.750+194_750+195insA
ENST00000257555.11:c.944_945insA MANE Select ENSP00000257555.5:p.Ser315ArgfsTer2
ENST00000257555.10:c.944_945insA ENSP00000257555.4:p.Ser315ArgfsTer2
ENST00000400024.6:c.944_945insA ENSP00000476181.1:p.Ser315ArgfsTer2
ENST00000402929.5:n.1079_1080insA
ENST00000535955.5:n.43-3097_43-3096insA
ENST00000538626.2:n.191-3097_191-3096insA
ENST00000538646.5:c.757_758insA ENSP00000443964.1:p.Val253AspfsTer?
ENST00000540108.1:c.*384_*385insA ENSP00000445445.1:n.*384_*385insA
ENST00000541395.5:c.944_945insA ENSP00000443112.1:p.Ser315ArgfsTer2
ENST00000541924.5:c.713+688_713+689insA ENSP00000440361.1:n.713+688_713+689insA
ENST00000543427.5:c.633+768_633+769insA ENSP00000439721.2:n.633+768_633+769insA
ENST00000544413.2:c.944_945insA ENSP00000438804.1:p.Ser315ArgfsTer2
ENST00000544574.5:c.73-2223_73-2222insA ENSP00000438565.1:n.73-2223_73-2222insA
ENST00000560968.5:c.893+194_893+195insA
ENST00000615446.4:c.-257-1868_-257-1867insA ENSP00000483994.1:n.-257-1868_-257-1867insA
ENST00000617366.4:c.586+815_586+816insA ENSP00000481967.1:n.586+815_586+816insA
NM_000545.5:c.944_945insA , LRG_522t1:c.944_945insA NP_000536.5:p.Ser315ArgfsTer2
NM_000545.6:c.944_945insA NP_000536.5:p.Ser315ArgfsTer2
NM_001306179.1:c.944_945insA NP_001293108.1:p.Ser315ArgfsTer2
XM_005253931.2:c.944_945insA XP_005253988.1:p.Ser315ArgfsTer2
XM_024449168.1:c.944_945insA XP_024304936.1:p.Ser315ArgfsTer2
NM_000545.8:c.944_945insA MANE Select NP_000536.6:p.Ser315ArgfsTer2
NM_001306179.2:c.944_945insA NP_001293108.2:p.Ser315ArgfsTer2
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