Canonical Allele Identifier: CA2621382508
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120989087-A-ATGAGTTAGGGGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120989087_120989088insTGAGTTAGGGGAG , CM000674.2:g.120989087_120989088insTGAGTTAGGGGAG GRCh38
NC_000012.11:g.121426890_121426891insTGAGTTAGGGGAG , CM000674.1:g.121426890_121426891insTGAGTTAGGGGAG GRCh37
NC_000012.10:g.119911273_119911274insTGAGTTAGGGGAG NCBI36
NG_011731.2:g.15342_15343insTGAGTTAGGGGAG , LRG_522:g.15342_15343insTGAGTTAGGGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000453965.2:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000257555.11:c.526+55_526+56insTGAGTTAGGGGAG MANE Select ENSP00000257555.5:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000257555.10:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000257555.4:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000400024.6:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000476181.1:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000402929.5:n.661+55_661+56insTGAGTTAGGGGAG
ENST00000535955.5:n.43-8404_43-8403insTGAGTTAGGGGAG
ENST00000538626.2:n.191-8404_191-8403insTGAGTTAGGGGAG
ENST00000538646.5:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000443964.1:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000540108.1:c.327-4433_327-4432insTGAGTTAGGGGAG ENSP00000445445.1:n.327-4433_327-4432insTGAGTTAGGGGAG
ENST00000541395.5:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000443112.1:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000541924.5:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000440361.1:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000543427.5:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000439721.2:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000544413.2:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000438804.1:n.526+55_526+56insTGAGTTAGGGGAG
ENST00000544574.5:c.73-7530_73-7529insTGAGTTAGGGGAG ENSP00000438565.1:n.73-7530_73-7529insTGAGTTAGGGGAG
ENST00000560968.5:c.669+55_669+56insTGAGTTAGGGGAG
ENST00000615446.4:c.-257-7175_-257-7174insTGAGTTAGGGGAG ENSP00000483994.1:n.-257-7175_-257-7174insTGAGTTAGGGGAG
ENST00000617366.4:c.526+55_526+56insTGAGTTAGGGGAG ENSP00000481967.1:n.526+55_526+56insTGAGTTAGGGGAG
NM_000545.5:c.526+55_526+56insTGAGTTAGGGGAG , LRG_522t1:c.526+55_526+56insTGAGTTAGGGGAG NP_000536.5:n.526+55_526+56insTGAGTTAGGGGAG
NM_000545.6:c.526+55_526+56insTGAGTTAGGGGAG NP_000536.5:n.526+55_526+56insTGAGTTAGGGGAG
NM_001306179.1:c.526+55_526+56insTGAGTTAGGGGAG NP_001293108.1:n.526+55_526+56insTGAGTTAGGGGAG
XM_005253931.2:c.526+55_526+56insTGAGTTAGGGGAG XP_005253988.1:n.526+55_526+56insTGAGTTAGGGGAG
XM_024449168.1:c.526+55_526+56insTGAGTTAGGGGAG XP_024304936.1:n.526+55_526+56insTGAGTTAGGGGAG
NM_000545.8:c.526+55_526+56insTGAGTTAGGGGAG MANE Select NP_000536.6:n.526+55_526+56insTGAGTTAGGGGAG
NM_001306179.2:c.526+55_526+56insTGAGTTAGGGGAG NP_001293108.2:n.526+55_526+56insTGAGTTAGGGGAG
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