Canonical Allele Identifier: CA961071164
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1893056050
gnomAD v3: 14-23433994-CCCTGTAGGAGCA-C
gnomAD v4: 14-23433994-CCCTGTAGGAGCA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433995_23434006del , CM000676.2:g.23433995_23434006del GRCh38
NC_000014.8:g.23903204_23903215del , CM000676.1:g.23903204_23903215del GRCh37
NC_000014.7:g.22973044_22973055del NCBI36
NG_007884.1:g.6656_6667del , LRG_384:g.6656_6667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+188_-9+199del MANE Select ENSP00000347507.3:n.-9+188_-9+199del
ENST00000355349.3:c.-9+188_-9+199del ENSP00000347507.3:n.-9+188_-9+199del
NM_000257.3:c.-9+188_-9+199del NP_000248.2:n.-9+188_-9+199del
XR_245686.3:n.98+188_98+199del
XM_017021340.1:c.-8-266_-8-255del XP_016876829.1:n.-8-266_-8-255del
NM_000257.4:c.-9+188_-9+199del MANE Select NP_000248.2:n.-9+188_-9+199del
Search 100 bp 5'
Search 100 bp 3'