Canonical Allele Identifier: CA704291176

Gene: MYH7

Linked Data

• dbSNP Id: rs61677533
• gnomAD v3: 14-23423436-AACACACACACACACACACAC-A
• gnomAD v4: 14-23423436-AACACACACACACACACACAC-A
• MyVariant Identifiers: chr14:g.23892646_23892665del (hg19) ; chr14:g.23423437_23423456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423468_23423487del , CM000676.2:g.23423468_23423487del	GRCh38
NC_000014.8:g.23892677_23892696del , CM000676.1:g.23892677_23892696del	GRCh37
NC_000014.7:g.22962517_22962536del	NCBI36
NG_007884.1:g.17206_17225del , LRG_384:g.17206_17225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+91_3099+110del MANE Select	ENSP00000347507.3:n.3099+91_3099+110del
ENST00000355349.3:c.3099+91_3099+110del	ENSP00000347507.3:n.3099+91_3099+110del
NM_000257.3:c.3099+91_3099+110del	NP_000248.2:n.3099+91_3099+110del
XR_245686.3:n.3205+91_3205+110del
XM_017021340.1:c.3099+91_3099+110del	XP_016876829.1:n.3099+91_3099+110del
NM_000257.4:c.3099+91_3099+110del MANE Select	NP_000248.2:n.3099+91_3099+110del