Allele Registry

Canonical Allele Identifier: CA10575815

Gene: FRRS1L HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.109149676dupT

GRCh38 chr9:g.109149675_109149676insT

GRCh37 chr9:g.111911956dupT

GRCh37 chr9:g.111911955_111911956insT

Linked Data - Sequence & Population

gnomAD v4:

chr9-109149675-A-AT

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000225128

RCV000239396

ClinVar Variation:

218154

dbSNP:

878853283

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.109149679dup , CM000671.2:g.109149679dup	GRCh38
NC_000009.11:g.111911959dup , CM000671.1:g.111911959dup	GRCh37
NC_000009.10:g.110951780dup	NCBI36
NG_051235.1:g.22616dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561981.5:c.283dup MANE Select	ENSP00000477141.2:p.Ile95AsnfsTer10
ENST00000642157.1:n.2518dup
ENST00000642299.1:c.237dup
ENST00000644736.1:c.155dup
ENST00000644747.1:c.104-2487dup	ENSP00000493964.1:n.104-2487dup
ENST00000561981.2:c.436dup	ENSP00000477141.1:p.Ile146AsnfsTer10
NM_014334.2:c.436dup	NP_055149.2:p.Ile146AsnfsTer10
XM_011518453.1:c.88dup	XP_011516755.1:p.Ile30AsnfsTer10
XM_011518454.1:c.88dup	XP_011516756.1:p.Ile30AsnfsTer10
NM_014334.3:c.436dup	NP_055149.2:p.Ile146AsnfsTer10
XM_011518454.3:c.88dup	XP_011516756.1:p.Ile30AsnfsTer10
NM_014334.4:c.283dup MANE Select	NP_055149.3:p.Ile95AsnfsTer10

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