Canonical Allele Identifier: CA2695217558
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997470_120997481del , CM000674.2:g.120997470_120997481del GRCh38
NC_000012.11:g.121435273_121435284del , CM000674.1:g.121435273_121435284del GRCh37
NC_000012.10:g.119919656_119919667del NCBI36
NG_011731.2:g.23725_23736del , LRG_522:g.23725_23736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*57-4_*64del
ENST00000257555.11:c.1310-4_1317del
ENST00000257555.10:c.1310-4_1317del
ENST00000400024.6:c.1310-4_1317del
ENST00000402929.5:n.2172_2183del
ENST00000535955.5:n.43-21_43-10del
ENST00000538626.2:n.191-21_191-10del
ENST00000538646.5:c.*286-4_*293del
ENST00000540108.1:c.*750-4_*757del
ENST00000541395.5:c.1310-4_1317del
ENST00000541924.5:c.*324-4_*331del
ENST00000543255.1:n.354-4_361del
ENST00000543427.5:c.773-4_780del
ENST00000544413.2:c.1310-4_1317del
ENST00000544574.5:c.*73-4_*80del
ENST00000560968.5:c.1127-4_1134del
ENST00000615446.4:c.98-4_105del
ENST00000617366.4:c.587-164_587-153del ENSP00000481967.1:n.587-164_587-153del
NM_000545.5:c.1310-4_1317del , LRG_522t1:c.1310-4_1317del
NM_000545.6:c.1310-4_1317del
NM_001306179.1:c.1310-4_1317del
XM_005253931.2:c.1310-4_1317del
XM_024449168.1:c.1310-4_1317del
NM_000545.8:c.1310-4_1317del
NM_001306179.2:c.1310-4_1317del