Canonical Allele Identifier: CA2621382471
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120989083-C-CCCCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120989085_120989086insCACC , CM000674.2:g.120989085_120989086insCACC GRCh38
NC_000012.11:g.121426888_121426889insCACC , CM000674.1:g.121426888_121426889insCACC GRCh37
NC_000012.10:g.119911271_119911272insCACC NCBI36
NG_011731.2:g.15340_15341insCACC , LRG_522:g.15340_15341insCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.526+53_526+54insCACC ENSP00000453965.2:n.526+53_526+54insCACC
ENST00000257555.11:c.526+53_526+54insCACC MANE Select ENSP00000257555.5:n.526+53_526+54insCACC
ENST00000257555.10:c.526+53_526+54insCACC ENSP00000257555.4:n.526+53_526+54insCACC
ENST00000400024.6:c.526+53_526+54insCACC ENSP00000476181.1:n.526+53_526+54insCACC
ENST00000402929.5:n.661+53_661+54insCACC
ENST00000535955.5:n.43-8406_43-8405insCACC
ENST00000538626.2:n.191-8406_191-8405insCACC
ENST00000538646.5:c.526+53_526+54insCACC ENSP00000443964.1:n.526+53_526+54insCACC
ENST00000540108.1:c.327-4435_327-4434insCACC ENSP00000445445.1:n.327-4435_327-4434insCACC
ENST00000541395.5:c.526+53_526+54insCACC ENSP00000443112.1:n.526+53_526+54insCACC
ENST00000541924.5:c.526+53_526+54insCACC ENSP00000440361.1:n.526+53_526+54insCACC
ENST00000543427.5:c.526+53_526+54insCACC ENSP00000439721.2:n.526+53_526+54insCACC
ENST00000544413.2:c.526+53_526+54insCACC ENSP00000438804.1:n.526+53_526+54insCACC
ENST00000544574.5:c.73-7532_73-7531insCACC ENSP00000438565.1:n.73-7532_73-7531insCACC
ENST00000560968.5:c.669+53_669+54insCACC
ENST00000615446.4:c.-257-7177_-257-7176insCACC ENSP00000483994.1:n.-257-7177_-257-7176insCACC
ENST00000617366.4:c.526+53_526+54insCACC ENSP00000481967.1:n.526+53_526+54insCACC
NM_000545.5:c.526+53_526+54insCACC , LRG_522t1:c.526+53_526+54insCACC NP_000536.5:n.526+53_526+54insCACC
NM_000545.6:c.526+53_526+54insCACC NP_000536.5:n.526+53_526+54insCACC
NM_001306179.1:c.526+53_526+54insCACC NP_001293108.1:n.526+53_526+54insCACC
XM_005253931.2:c.526+53_526+54insCACC XP_005253988.1:n.526+53_526+54insCACC
XM_024449168.1:c.526+53_526+54insCACC XP_024304936.1:n.526+53_526+54insCACC
NM_000545.8:c.526+53_526+54insCACC MANE Select NP_000536.6:n.526+53_526+54insCACC
NM_001306179.2:c.526+53_526+54insCACC NP_001293108.2:n.526+53_526+54insCACC
Search 100 bp 5'
Search 100 bp 3'