Canonical Allele Identifier: CA2782078417
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125032330_125032331del , CM000670.2:g.125032330_125032331del GRCh38
NC_000008.10:g.126044572_126044573del , CM000670.1:g.126044572_126044573del GRCh37
NC_000008.9:g.126113754_126113755del NCBI36
NG_012636.1:g.64491_64492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318410.12:c.3247_3248del MANE Select ENSP00000318016.7:p.Leu1083AlafsTer?
ENST00000318410.11:c.3247_3248del ENSP00000318016.7:p.Leu1083AlafsTer?
ENST00000517845.5:c.2803_2804del ENSP00000429676.1:p.Leu935AlafsTer?
ENST00000519042.2:n.386_387del
NM_014846.3:c.3247_3248del NP_055661.3:p.Leu1083AlafsTer?
XM_005251120.2:c.2803_2804del XP_005251177.1:p.Leu935AlafsTer?
NM_001330609.1:c.2803_2804del NP_001317538.1:p.Leu935AlafsTer?
XM_017014113.2:c.3247_3248del XP_016869602.1:p.Leu1083AlafsTer?
NM_014846.4:c.3247_3248del MANE Select NP_055661.3:p.Leu1083AlafsTer?
NM_001330609.2:c.2803_2804del NP_001317538.1:p.Leu935AlafsTer?