Canonical Allele Identifier: CA704291121

Gene: MYH7

Linked Data

• dbSNP Id: rs1479993315
• gnomAD v3: 14-23423428-TAAACAC-T
• gnomAD v4: 14-23423428-TAAACAC-T
• MyVariant Identifiers: chr14:g.23892638_23892643del (hg19) ; chr14:g.23423429_23423434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423436_23423441del , CM000676.2:g.23423436_23423441del	GRCh38
NC_000014.8:g.23892645_23892650del , CM000676.1:g.23892645_23892650del	GRCh37
NC_000014.7:g.22962485_22962490del	NCBI36
NG_007884.1:g.17228_17233del , LRG_384:g.17228_17233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+113_3099+118del MANE Select	ENSP00000347507.3:n.3099+113_3099+118del
ENST00000355349.3:c.3099+113_3099+118del	ENSP00000347507.3:n.3099+113_3099+118del
NM_000257.3:c.3099+113_3099+118del	NP_000248.2:n.3099+113_3099+118del
XR_245686.3:n.3205+113_3205+118del
XM_017021340.1:c.3099+113_3099+118del	XP_016876829.1:n.3099+113_3099+118del
NM_000257.4:c.3099+113_3099+118del MANE Select	NP_000248.2:n.3099+113_3099+118del