Canonical Allele Identifier: CA846928435

Gene: WASHC5

Linked Data

• dbSNP Id: rs1351776229
• gnomAD v2: 8-126069731-CA-C
• gnomAD v3: 8-125057489-CA-C
• gnomAD v4: 8-125057489-CA-C
• MyVariant Identifiers: chr8:g.126069732del (hg19) ; chr8:g.125057490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057490del , CM000670.2:g.125057490del	GRCh38
NC_000008.10:g.126069732del , CM000670.1:g.126069732del	GRCh37
NC_000008.9:g.126138914del	NCBI36
NG_012636.1:g.39330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.1875+66del MANE Select	ENSP00000318016.7:n.1875+66del
ENST00000318410.11:c.1875+66del	ENSP00000318016.7:n.1875+66del
ENST00000517845.5:c.1431+66del	ENSP00000429676.1:n.1431+66del
NM_014846.3:c.1875+66del	NP_055661.3:n.1875+66del
XM_005251120.2:c.1431+66del	XP_005251177.1:n.1431+66del
XM_011517409.1:c.1875+66del	XP_011515711.1:n.1875+66del
XM_011517410.1:c.1875+66del	XP_011515712.1:n.1875+66del
NM_001330609.1:c.1431+66del	NP_001317538.1:n.1431+66del
XM_017014113.2:c.1875+66del	XP_016869602.1:n.1875+66del
NM_014846.4:c.1875+66del MANE Select	NP_055661.3:n.1875+66del
NM_001330609.2:c.1431+66del	NP_001317538.1:n.1431+66del