Canonical Allele Identifier: CA726644374
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs1360379409
gnomAD v3: 17-18146177-C-CTTAA
gnomAD v4: 17-18146177-C-CTTAA
MyVariant Identifiers: chr17:g.18049491_18049492insTTAA (hg19) chr17:g.18146177_18146178insTTAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146178_18146181dup , CM000679.2:g.18146178_18146181dup GRCh38
NC_000017.10:g.18049492_18049495dup , CM000679.1:g.18049492_18049495dup GRCh37
NC_000017.9:g.17990217_17990220dup NCBI36
NG_011634.1:g.42473_42476dup
NG_011634.2:g.42473_42476dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6509+71_6509+74dup MANE Select ENSP00000495481.1:n.6509+71_6509+74dup
ENST00000205890.9:c.6509+71_6509+74dup ENSP00000205890.5:n.6509+71_6509+74dup
ENST00000578999.1:n.94+71_94+74dup
ENST00000615845.4:c.6509+71_6509+74dup ENSP00000481642.1:n.6509+71_6509+74dup
NM_016239.3:c.6509+71_6509+74dup NP_057323.3:n.6509+71_6509+74dup
XM_011523917.1:c.6449+71_6449+74dup XP_011522219.1:n.6449+71_6449+74dup
XM_011523918.1:c.6342+178_6342+181dup XP_011522220.1:n.6342+178_6342+181dup
XM_011523921.1:c.6503+71_6503+74dup XP_011522223.1:n.6503+71_6503+74dup
XR_934037.1:n.7108+71_7108+74dup
XR_934038.1:n.7108+71_7108+74dup
XM_011523918.2:c.6342+178_6342+181dup XP_011522220.1:n.6342+178_6342+181dup
XM_017024714.2:c.6449+71_6449+74dup XP_016880203.1:n.6449+71_6449+74dup
XM_017024715.2:c.6512+71_6512+74dup XP_016880204.1:n.6512+71_6512+74dup
XM_024450781.1:c.6213+1586_6213+1589dup XP_024306549.1:n.6213+1586_6213+1589dup
NM_016239.4:c.6509+71_6509+74dup MANE Select NP_057323.3:n.6509+71_6509+74dup
Search 100 bp 5'
Search 100 bp 3'