Canonical Allele Identifier: CA446897276

Gene: FCHSD1

Linked Data

• dbSNP Id: rs1216777973
• gnomAD v2: 5-141026821-T-TCA
• gnomAD v3: 5-141647254-T-TCA
• gnomAD v4: 5-141647254-T-TCA
• MyVariant Identifiers: chr5:g.141026821_141026822insCA (hg19) ; chr5:g.141647254_141647255insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647256_141647257dup , CM000667.2:g.141647256_141647257dup	GRCh38
NC_000005.9:g.141026823_141026824dup , CM000667.1:g.141026823_141026824dup	GRCh37
NC_000005.8:g.141007007_141007008dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.829-26_829-25dup MANE Select	ENSP00000399259.2:n.829-26_829-25dup
ENST00000435817.6:c.829-26_829-25dup	ENSP00000399259.2:n.829-26_829-25dup
ENST00000522126.5:c.601-26_601-25dup	ENSP00000427796.1:n.601-26_601-25dup
ENST00000522386.1:n.435-26_435-25dup
ENST00000522763.5:n.133-26_133-25dup
ENST00000522783.5:c.823-26_823-25dup	ENSP00000428677.1:n.823-26_823-25dup
ENST00000523856.5:n.87-26_87-25dup
NM_033449.2:c.829-26_829-25dup	NP_258260.1:n.829-26_829-25dup
XM_005268524.3:c.823-26_823-25dup	XP_005268581.1:n.823-26_823-25dup
XM_006714803.2:c.700-26_700-25dup	XP_006714866.1:n.700-26_700-25dup
XM_011537698.1:c.829-26_829-25dup	XP_011536000.1:n.829-26_829-25dup
XM_011537699.1:c.829-26_829-25dup	XP_011536001.1:n.829-26_829-25dup
XM_011537700.1:c.829-26_829-25dup	XP_011536002.1:n.829-26_829-25dup
XM_011537701.1:c.829-26_829-25dup	XP_011536003.1:n.829-26_829-25dup
XR_427781.2:n.883-26_883-25dup
XR_944338.1:n.889-26_889-25dup
XR_944339.1:n.889-26_889-25dup
XM_005268524.5:c.823-26_823-25dup	XP_005268581.1:n.823-26_823-25dup
XM_006714803.4:c.700-26_700-25dup	XP_006714866.1:n.700-26_700-25dup
XM_011537698.3:c.829-26_829-25dup	XP_011536000.1:n.829-26_829-25dup
XM_011537700.3:c.829-26_829-25dup	XP_011536002.1:n.829-26_829-25dup
XM_011537701.3:c.829-26_829-25dup	XP_011536003.1:n.829-26_829-25dup
XM_017010013.2:c.829-26_829-25dup	XP_016865502.1:n.829-26_829-25dup
XR_002956197.1:n.825-26_825-25dup
XR_427781.4:n.825-26_825-25dup
XR_944338.3:n.904-26_904-25dup
XR_944339.3:n.904-26_904-25dup
NM_033449.3:c.829-26_829-25dup MANE Select	NP_258260.1:n.829-26_829-25dup