Canonical Allele Identifier: CA4873430

Gene: WASHC5 WASHC5-AS1

Linked Data

• dbSNP Id: rs780129491
• ExAC: 8:126056098 ATCT / A
• gnomAD v2: 8-126056098-ATCT-A
• gnomAD v4: 8-125043856-ATCT-A
• MyVariant Identifiers: chr8:g.126056099_126056101del (hg19) ; chr8:g.125043857_125043859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125043860_125043862del , CM000670.2:g.125043860_125043862del	GRCh38
NC_000008.10:g.126056102_126056104del , CM000670.1:g.126056102_126056104del	GRCh37
NC_000008.9:g.126125284_126125286del	NCBI36
NG_012636.1:g.52961_52963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2816_2818del (WASHC5) MANE Select	ENSP00000318016.7:p.Lys939del
ENST00000318410.11:c.2816_2818del (WASHC5)	ENSP00000318016.7:p.Lys939del
ENST00000517845.5:c.2372_2374del (WASHC5)	ENSP00000429676.1:p.Lys791del
NM_014846.3:c.2816_2818del (WASHC5)	NP_055661.3:p.Lys939del
XM_005251120.2:c.2372_2374del (WASHC5)	XP_005251177.1:p.Lys791del
XM_011517409.1:c.2816_2818del (WASHC5)	XP_011515711.1:p.Lys939del
XM_011517410.1:c.2816_2818del (WASHC5)	XP_011515712.1:p.Lys939del
NM_001330609.1:c.2372_2374del (WASHC5)	NP_001317538.1:p.Lys791del
XM_017014113.2:c.2816_2818del (WASHC5)	XP_016869602.1:p.Lys939del
NM_014846.4:c.2816_2818del (WASHC5) MANE Select	NP_055661.3:p.Lys939del
NM_001330609.2:c.2372_2374del (WASHC5)	NP_001317538.1:p.Lys791del
NR_170219.1:n.97-639_97-637del (WASHC5-AS1)