Canonical Allele Identifier: CA612937367

Gene: MYH7

Linked Data

• gnomAD v2: 14-23892702-CTGGG-C
• gnomAD v3: 14-23423493-CTGGG-C
• gnomAD v4: 14-23423493-CTGGG-C
• MyVariant Identifiers: chr14:g.23892703_23892706del (hg19) ; chr14:g.23423494_23423497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423494_23423497del , CM000676.2:g.23423494_23423497del	GRCh38
NC_000014.8:g.23892703_23892706del , CM000676.1:g.23892703_23892706del	GRCh37
NC_000014.7:g.22962543_22962546del	NCBI36
NG_007884.1:g.17165_17168del , LRG_384:g.17165_17168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+50_3099+53del MANE Select	ENSP00000347507.3:n.3099+50_3099+53del
ENST00000355349.3:c.3099+50_3099+53del	ENSP00000347507.3:n.3099+50_3099+53del
NM_000257.3:c.3099+50_3099+53del	NP_000248.2:n.3099+50_3099+53del
XR_245686.3:n.3205+50_3205+53del
XM_017021340.1:c.3099+50_3099+53del	XP_016876829.1:n.3099+50_3099+53del
NM_000257.4:c.3099+50_3099+53del MANE Select	NP_000248.2:n.3099+50_3099+53del