Canonical Allele Identifier: CA2641793581
Gene: MYO5B HGNC NCBI

Linked Data

gnomAD v4: 18-49878934-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49878940del , CM000680.2:g.49878940del GRCh38
NC_000018.9:g.47405310del , CM000680.1:g.47405310del GRCh37
NC_000018.8:g.45659308del NCBI36
NG_012925.1:g.321147del
NG_012925.2:g.321147del

Transcript Alleles

HGVS Amino-acid change
ENST00000697218.1:n.40del
ENST00000697219.1:c.3073+10del
ENST00000285039.12:c.3276+10del MANE Select ENSP00000285039.6:n.3276+10del
ENST00000285039.11:c.3276+10del ENSP00000285039.6:n.3276+10del
ENST00000324581.10:c.705+10del ENSP00000315531.7:n.705+10del
ENST00000589568.1:n.477+10del
ENST00000616031.4:c.1907-42202del ENSP00000479038.1:n.1907-42202del
NM_001080467.2:c.3276+10del NP_001073936.1:n.3276+10del
NM_001080467.3:c.3276+10del MANE Select NP_001073936.1:n.3276+10del
Search 100 bp 5'
Search 100 bp 3'