Canonical Allele Identifier: CA3480822

Gene: FCHSD1

Linked Data

• dbSNP Id: rs746969998
• ExAC: 5:141026930 TCCC / T
• gnomAD v2: 5-141026930-TCCC-T
• gnomAD v3: 5-141647363-TCCC-T
• gnomAD v4: 5-141647363-TCCC-T
• MyVariant Identifiers: chr5:g.141026931_141026933del (hg19) ; chr5:g.141647365_141647367del (hg38) ; chr5:g.141647364_141647366del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647365_141647367del , CM000667.2:g.141647365_141647367del	GRCh38
NC_000005.9:g.141026932_141026934del , CM000667.1:g.141026932_141026934del	GRCh37
NC_000005.8:g.141007116_141007118del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.828+32_828+34del MANE Select	ENSP00000399259.2:n.828+32_828+34del
ENST00000435817.6:c.828+32_828+34del	ENSP00000399259.2:n.828+32_828+34del
ENST00000522126.5:c.600+32_600+34del	ENSP00000427796.1:n.600+32_600+34del
ENST00000522386.1:n.434+32_434+34del
ENST00000522763.5:n.132+32_132+34del
ENST00000522783.5:c.822+32_822+34del	ENSP00000428677.1:n.822+32_822+34del
ENST00000523856.5:n.86+32_86+34del
NM_033449.2:c.828+32_828+34del	NP_258260.1:n.828+32_828+34del
XM_005268524.3:c.822+32_822+34del	XP_005268581.1:n.822+32_822+34del
XM_006714803.2:c.699+32_699+34del	XP_006714866.1:n.699+32_699+34del
XM_011537698.1:c.828+32_828+34del	XP_011536000.1:n.828+32_828+34del
XM_011537699.1:c.828+32_828+34del	XP_011536001.1:n.828+32_828+34del
XM_011537700.1:c.828+32_828+34del	XP_011536002.1:n.828+32_828+34del
XM_011537701.1:c.828+32_828+34del	XP_011536003.1:n.828+32_828+34del
XR_427781.2:n.882+32_882+34del
XR_944338.1:n.888+32_888+34del
XR_944339.1:n.888+32_888+34del
XM_005268524.5:c.822+32_822+34del	XP_005268581.1:n.822+32_822+34del
XM_006714803.4:c.699+32_699+34del	XP_006714866.1:n.699+32_699+34del
XM_011537698.3:c.828+32_828+34del	XP_011536000.1:n.828+32_828+34del
XM_011537700.3:c.828+32_828+34del	XP_011536002.1:n.828+32_828+34del
XM_011537701.3:c.828+32_828+34del	XP_011536003.1:n.828+32_828+34del
XM_017010013.2:c.828+32_828+34del	XP_016865502.1:n.828+32_828+34del
XR_002956197.1:n.824+32_824+34del
XR_427781.4:n.824+32_824+34del
XR_944338.3:n.903+32_903+34del
XR_944339.3:n.903+32_903+34del
NM_033449.3:c.828+32_828+34del MANE Select	NP_258260.1:n.828+32_828+34del