Canonical Allele Identifier: CA939499137

Gene: FCHSD2

Linked Data

• dbSNP Id: rs58451717
• gnomAD v3: 11-72959853-GGTGTGTGTGTGTGTGTGT-G
• gnomAD v4: 11-72959853-GGTGTGTGTGTGTGTGTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72959868_72959885del , CM000673.2:g.72959868_72959885del	GRCh38
NC_000011.9:g.72670913_72670930del , CM000673.1:g.72670913_72670930del	GRCh37
NC_000011.8:g.72348561_72348578del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409418.9:c.705+24217_705+24234del MANE Select	ENSP00000386722.4:n.705+24217_705+24234del
ENST00000311172.11:c.537+24217_537+24234del	ENSP00000308978.7:n.537+24217_537+24234del
ENST00000409314.5:c.705+24217_705+24234del	ENSP00000386987.1:n.705+24217_705+24234del
ENST00000409418.8:c.705+24217_705+24234del	ENSP00000386722.4:n.705+24217_705+24234del
ENST00000409853.5:c.537+24217_537+24234del	ENSP00000386314.1:n.537+24217_537+24234del
ENST00000458644.6:c.225+24217_225+24234del	ENSP00000402972.2:n.225+24217_225+24234del
NM_014824.2:c.705+24217_705+24234del	NP_055639.2:n.705+24217_705+24234del
XM_011545409.1:c.642+24217_642+24234del	XP_011543711.1:n.642+24217_642+24234del
XM_011545410.1:c.630+24217_630+24234del	XP_011543712.1:n.630+24217_630+24234del
XM_011545411.1:c.471+24217_471+24234del	XP_011543713.1:n.471+24217_471+24234del
XM_011545412.1:c.705+24217_705+24234del	XP_011543714.1:n.705+24217_705+24234del
XM_011545410.2:c.630+24217_630+24234del	XP_011543712.1:n.630+24217_630+24234del
XM_017018632.1:c.642+24217_642+24234del	XP_016874121.1:n.642+24217_642+24234del
XR_001748055.1:n.1510+24217_1510+24234del
NM_014824.3:c.705+24217_705+24234del MANE Select	NP_055639.2:n.705+24217_705+24234del