Canonical Allele Identifier: CA244529894

Gene: HNF1A

Linked Data

• dbSNP Id: rs878894843
• gnomAD v3: 12-120989125-TAC-T
• gnomAD v4: 12-120989125-TAC-T
• MyVariant Identifiers: chr12:g.121426929_121426930del (hg19) ; chr12:g.120989126_120989127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120989129_120989130del , CM000674.2:g.120989129_120989130del	GRCh38
NC_000012.11:g.121426932_121426933del , CM000674.1:g.121426932_121426933del	GRCh37
NC_000012.10:g.119911315_119911316del	NCBI36
NG_011731.2:g.15384_15385del , LRG_522:g.15384_15385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.526+97_526+98del	ENSP00000453965.2:n.526+97_526+98del
ENST00000257555.11:c.526+97_526+98del MANE Select	ENSP00000257555.5:n.526+97_526+98del
ENST00000257555.10:c.526+97_526+98del	ENSP00000257555.4:n.526+97_526+98del
ENST00000400024.6:c.526+97_526+98del	ENSP00000476181.1:n.526+97_526+98del
ENST00000402929.5:n.661+97_661+98del
ENST00000535955.5:n.43-8362_43-8361del
ENST00000538626.2:n.191-8362_191-8361del
ENST00000538646.5:c.526+97_526+98del	ENSP00000443964.1:n.526+97_526+98del
ENST00000540108.1:c.327-4391_327-4390del	ENSP00000445445.1:n.327-4391_327-4390del
ENST00000541395.5:c.526+97_526+98del	ENSP00000443112.1:n.526+97_526+98del
ENST00000541924.5:c.526+97_526+98del	ENSP00000440361.1:n.526+97_526+98del
ENST00000543427.5:c.526+97_526+98del	ENSP00000439721.2:n.526+97_526+98del
ENST00000544413.2:c.526+97_526+98del	ENSP00000438804.1:n.526+97_526+98del
ENST00000544574.5:c.73-7488_73-7487del	ENSP00000438565.1:n.73-7488_73-7487del
ENST00000560968.5:c.669+97_669+98del
ENST00000615446.4:c.-257-7133_-257-7132del	ENSP00000483994.1:n.-257-7133_-257-7132del
ENST00000617366.4:c.526+97_526+98del	ENSP00000481967.1:n.526+97_526+98del
NM_000545.5:c.526+97_526+98del , LRG_522t1:c.526+97_526+98del	NP_000536.5:n.526+97_526+98del
NM_000545.6:c.526+97_526+98del	NP_000536.5:n.526+97_526+98del
NM_001306179.1:c.526+97_526+98del	NP_001293108.1:n.526+97_526+98del
XM_005253931.2:c.526+97_526+98del	XP_005253988.1:n.526+97_526+98del
XM_024449168.1:c.526+97_526+98del	XP_024304936.1:n.526+97_526+98del
NM_000545.8:c.526+97_526+98del MANE Select	NP_000536.6:n.526+97_526+98del
NM_001306179.2:c.526+97_526+98del	NP_001293108.2:n.526+97_526+98del