Canonical Allele Identifier: CA961071890
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892438507

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420657_23420658del , CM000676.2:g.23420657_23420658del GRCh38
NC_000014.8:g.23889866_23889867del , CM000676.1:g.23889866_23889867del GRCh37
NC_000014.7:g.22959706_22959707del NCBI36
NG_007884.1:g.20004_20005del , LRG_384:g.20004_20005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3336+300_3336+301del MANE Select ENSP00000347507.3:n.3336+300_3336+301del
ENST00000355349.3:c.3336+300_3336+301del ENSP00000347507.3:n.3336+300_3336+301del
NM_000257.3:c.3336+300_3336+301del NP_000248.2:n.3336+300_3336+301del
XR_245686.3:n.3444+300_3444+301del
XM_017021340.1:c.3336+300_3336+301del XP_016876829.1:n.3336+300_3336+301del
NM_000257.4:c.3336+300_3336+301del MANE Select NP_000248.2:n.3336+300_3336+301del