Canonical Allele Identifier: CA2621382612

Gene: HNF1A

Linked Data

• gnomAD v4: 12-120989102-GCTGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120989103_120989107del , CM000674.2:g.120989103_120989107del	GRCh38
NC_000012.11:g.121426906_121426910del , CM000674.1:g.121426906_121426910del	GRCh37
NC_000012.10:g.119911289_119911293del	NCBI36
NG_011731.2:g.15358_15362del , LRG_522:g.15358_15362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.526+71_526+75del	ENSP00000453965.2:n.526+71_526+75del
ENST00000257555.11:c.526+71_526+75del MANE Select	ENSP00000257555.5:n.526+71_526+75del
ENST00000257555.10:c.526+71_526+75del	ENSP00000257555.4:n.526+71_526+75del
ENST00000400024.6:c.526+71_526+75del	ENSP00000476181.1:n.526+71_526+75del
ENST00000402929.5:n.661+71_661+75del
ENST00000535955.5:n.43-8388_43-8384del
ENST00000538626.2:n.191-8388_191-8384del
ENST00000538646.5:c.526+71_526+75del	ENSP00000443964.1:n.526+71_526+75del
ENST00000540108.1:c.327-4417_327-4413del	ENSP00000445445.1:n.327-4417_327-4413del
ENST00000541395.5:c.526+71_526+75del	ENSP00000443112.1:n.526+71_526+75del
ENST00000541924.5:c.526+71_526+75del	ENSP00000440361.1:n.526+71_526+75del
ENST00000543427.5:c.526+71_526+75del	ENSP00000439721.2:n.526+71_526+75del
ENST00000544413.2:c.526+71_526+75del	ENSP00000438804.1:n.526+71_526+75del
ENST00000544574.5:c.73-7514_73-7510del	ENSP00000438565.1:n.73-7514_73-7510del
ENST00000560968.5:c.669+71_669+75del
ENST00000615446.4:c.-257-7159_-257-7155del	ENSP00000483994.1:n.-257-7159_-257-7155del
ENST00000617366.4:c.526+71_526+75del	ENSP00000481967.1:n.526+71_526+75del
NM_000545.5:c.526+71_526+75del , LRG_522t1:c.526+71_526+75del	NP_000536.5:n.526+71_526+75del
NM_000545.6:c.526+71_526+75del	NP_000536.5:n.526+71_526+75del
NM_001306179.1:c.526+71_526+75del	NP_001293108.1:n.526+71_526+75del
XM_005253931.2:c.526+71_526+75del	XP_005253988.1:n.526+71_526+75del
XM_024449168.1:c.526+71_526+75del	XP_024304936.1:n.526+71_526+75del
NM_000545.8:c.526+71_526+75del MANE Select	NP_000536.6:n.526+71_526+75del
NM_001306179.2:c.526+71_526+75del	NP_001293108.2:n.526+71_526+75del