Canonical Allele Identifier: CA128463341

Gene: FCHSD1

Linked Data

• dbSNP Id: rs970012924
• gnomAD v2: 5-141026893-CAA-C
• gnomAD v3: 5-141647326-CAA-C
• gnomAD v4: 5-141647326-CAA-C
• MyVariant Identifiers: chr5:g.141026894_141026895del (hg19) ; chr5:g.141647327_141647328del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647328_141647329del , CM000667.2:g.141647328_141647329del	GRCh38
NC_000005.9:g.141026895_141026896del , CM000667.1:g.141026895_141026896del	GRCh37
NC_000005.8:g.141007079_141007080del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435817.7:c.828+70_828+71del MANE Select	ENSP00000399259.2:n.828+70_828+71del
ENST00000435817.6:c.828+70_828+71del	ENSP00000399259.2:n.828+70_828+71del
ENST00000522126.5:c.600+70_600+71del	ENSP00000427796.1:n.600+70_600+71del
ENST00000522386.1:n.434+70_434+71del
ENST00000522763.5:n.132+70_132+71del
ENST00000522783.5:c.822+70_822+71del	ENSP00000428677.1:n.822+70_822+71del
ENST00000523856.5:n.86+70_86+71del
NM_033449.2:c.828+70_828+71del	NP_258260.1:n.828+70_828+71del
XM_005268524.3:c.822+70_822+71del	XP_005268581.1:n.822+70_822+71del
XM_006714803.2:c.699+70_699+71del	XP_006714866.1:n.699+70_699+71del
XM_011537698.1:c.828+70_828+71del	XP_011536000.1:n.828+70_828+71del
XM_011537699.1:c.828+70_828+71del	XP_011536001.1:n.828+70_828+71del
XM_011537700.1:c.828+70_828+71del	XP_011536002.1:n.828+70_828+71del
XM_011537701.1:c.828+70_828+71del	XP_011536003.1:n.828+70_828+71del
XR_427781.2:n.882+70_882+71del
XR_944338.1:n.888+70_888+71del
XR_944339.1:n.888+70_888+71del
XM_005268524.5:c.822+70_822+71del	XP_005268581.1:n.822+70_822+71del
XM_006714803.4:c.699+70_699+71del	XP_006714866.1:n.699+70_699+71del
XM_011537698.3:c.828+70_828+71del	XP_011536000.1:n.828+70_828+71del
XM_011537700.3:c.828+70_828+71del	XP_011536002.1:n.828+70_828+71del
XM_011537701.3:c.828+70_828+71del	XP_011536003.1:n.828+70_828+71del
XM_017010013.2:c.828+70_828+71del	XP_016865502.1:n.828+70_828+71del
XR_002956197.1:n.824+70_824+71del
XR_427781.4:n.824+70_824+71del
XR_944338.3:n.903+70_903+71del
XR_944339.3:n.903+70_903+71del
NM_033449.3:c.828+70_828+71del MANE Select	NP_258260.1:n.828+70_828+71del