Canonical Allele Identifier: CA2727258598
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135848446

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997739_120997740insACC , CM000674.2:g.120997739_120997740insACC GRCh38
NC_000012.11:g.121435542_121435543insACC , CM000674.1:g.121435542_121435543insACC GRCh37
NC_000012.10:g.119919925_119919926insACC NCBI36
NG_011731.2:g.23994_23995insACC , LRG_522:g.23994_23995insACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+74_*248+75insACC ENSP00000453965.2:n.*248+74_*248+75insACC
ENST00000257555.11:c.1501+74_1501+75insACC MANE Select ENSP00000257555.5:n.1501+74_1501+75insACC
ENST00000257555.10:c.1501+74_1501+75insACC ENSP00000257555.4:n.1501+74_1501+75insACC
ENST00000400024.6:c.1575_1576insACC ENSP00000476181.1:p.Gly525_Ala526insThr
ENST00000402929.5:n.2441_2442insACC
ENST00000535955.5:n.291_292insACC
ENST00000538626.2:n.439_440insACC
ENST00000538646.5:c.*551_*552insACC ENSP00000443964.1:n.*551_*552insACC
ENST00000540108.1:c.*941+74_*941+75insACC ENSP00000445445.1:n.*941+74_*941+75insACC
ENST00000541395.5:c.1501+74_1501+75insACC ENSP00000443112.1:n.1501+74_1501+75insACC
ENST00000541924.5:c.*589_*590insACC ENSP00000440361.1:n.*589_*590insACC
ENST00000543255.1:n.619_620insACC
ENST00000543427.5:c.964+74_964+75insACC ENSP00000439721.2:n.964+74_964+75insACC
ENST00000544413.2:c.1501+74_1501+75insACC ENSP00000438804.1:n.1501+74_1501+75insACC
ENST00000544574.5:c.*338_*339insACC ENSP00000438565.1:n.*338_*339insACC
ENST00000560968.5:c.1318+74_1318+75insACC
ENST00000615446.4:c.289+74_289+75insACC ENSP00000483994.1:n.289+74_289+75insACC
ENST00000617366.4:c.618+74_618+75insACC ENSP00000481967.1:n.618+74_618+75insACC
NM_000545.5:c.1501+74_1501+75insACC , LRG_522t1:c.1501+74_1501+75insACC NP_000536.5:n.1501+74_1501+75insACC
NM_000545.6:c.1501+74_1501+75insACC NP_000536.5:n.1501+74_1501+75insACC
NM_001306179.1:c.1501+74_1501+75insACC NP_001293108.1:n.1501+74_1501+75insACC
XM_005253931.2:c.1501+74_1501+75insACC XP_005253988.1:n.1501+74_1501+75insACC
XM_024449168.1:c.1501+74_1501+75insACC XP_024304936.1:n.1501+74_1501+75insACC
NM_000545.8:c.1501+74_1501+75insACC MANE Select NP_000536.6:n.1501+74_1501+75insACC
NM_001306179.2:c.1501+74_1501+75insACC NP_001293108.2:n.1501+74_1501+75insACC