Canonical Allele Identifier: CA257818654

Gene: MYH7

Linked Data

• dbSNP Id: rs769300611
• gnomAD v3: 14-23423482-CACACAG-C
• gnomAD v4: 14-23423482-CACACAG-C
• MyVariant Identifiers: chr14:g.23892692_23892697del (hg19) ; chr14:g.23423483_23423488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423484_23423489del , CM000676.2:g.23423484_23423489del	GRCh38
NC_000014.8:g.23892693_23892698del , CM000676.1:g.23892693_23892698del	GRCh37
NC_000014.7:g.22962533_22962538del	NCBI36
NG_007884.1:g.17174_17179del , LRG_384:g.17174_17179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+59_3099+64del MANE Select	ENSP00000347507.3:n.3099+59_3099+64del
ENST00000355349.3:c.3099+59_3099+64del	ENSP00000347507.3:n.3099+59_3099+64del
NM_000257.3:c.3099+59_3099+64del	NP_000248.2:n.3099+59_3099+64del
XR_245686.3:n.3205+59_3205+64del
XM_017021340.1:c.3099+59_3099+64del	XP_016876829.1:n.3099+59_3099+64del
NM_000257.4:c.3099+59_3099+64del MANE Select	NP_000248.2:n.3099+59_3099+64del