Canonical Allele Identifier: CA2624238990
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23417822-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417826del , CM000676.2:g.23417826del GRCh38
NC_000014.8:g.23887035del , CM000676.1:g.23887035del GRCh37
NC_000014.7:g.22956875del NCBI36
NG_007884.1:g.22839del , LRG_384:g.22839del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4170-137del MANE Select ENSP00000347507.3:n.4170-137del
ENST00000355349.3:c.4170-137del ENSP00000347507.3:n.4170-137del
NM_000257.3:c.4170-137del NP_000248.2:n.4170-137del
XM_017021340.1:c.4170-137del XP_016876829.1:n.4170-137del
NM_000257.4:c.4170-137del MANE Select NP_000248.2:n.4170-137del
Search 100 bp 5'
Search 100 bp 3'