Canonical Allele Identifier: CA2636448338
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18145985-ACAGCTGGC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145988_18145995del , CM000679.2:g.18145988_18145995del GRCh38
NC_000017.10:g.18049302_18049309del , CM000679.1:g.18049302_18049309del GRCh37
NC_000017.9:g.17990027_17990034del NCBI36
NG_011634.1:g.42283_42290del
NG_011634.2:g.42283_42290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6390_6397del MANE Select ENSP00000495481.1:p.Leu2131SerfsTer12
ENST00000205890.9:c.6390_6397del ENSP00000205890.5:p.Leu2131SerfsTer12
ENST00000615845.4:c.6390_6397del ENSP00000481642.1:p.Leu2131SerfsTer12
NM_016239.3:c.6390_6397del NP_057323.3:p.Leu2131SerfsTer12
XM_011523917.1:c.6330_6337del XP_011522219.1:p.Leu2111SerfsTer12
XM_011523918.1:c.6330_6337del XP_011522220.1:p.Leu2111SerfsTer?
XM_011523921.1:c.6384_6391del XP_011522223.1:p.Leu2129SerfsTer12
XR_934037.1:n.6989_6996del
XR_934038.1:n.6989_6996del
XM_011523918.2:c.6330_6337del XP_011522220.1:p.Leu2111SerfsTer?
XM_017024714.2:c.6330_6337del XP_016880203.1:p.Leu2111SerfsTer12
XM_017024715.2:c.6393_6400del XP_016880204.1:p.Leu2132SerfsTer12
XM_024450781.1:c.6213+1396_6213+1403del XP_024306549.1:n.6213+1396_6213+1403del
NM_016239.4:c.6390_6397del MANE Select NP_057323.3:p.Leu2131SerfsTer12
Search 100 bp 5'
Search 100 bp 3'