Canonical Allele Identifier: CA613317679

Gene: MYH7

Linked Data

• dbSNP Id: rs1566527409
• gnomAD v2: 14-23888861-GGGGAA-G
• gnomAD v4: 14-23419652-GGGGAA-G
• MyVariant Identifiers: chr14:g.23888862_23888866del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419653_23419657del , CM000676.2:g.23419653_23419657del	GRCh38
NC_000014.8:g.23888862_23888866del , CM000676.1:g.23888862_23888866del	GRCh37
NC_000014.7:g.22958702_22958706del	NCBI36
NG_007884.1:g.21005_21009del , LRG_384:g.21005_21009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3727-48_3727-44del MANE Select	ENSP00000347507.3:n.3727-48_3727-44del
ENST00000355349.3:c.3727-48_3727-44del	ENSP00000347507.3:n.3727-48_3727-44del
NM_000257.3:c.3727-48_3727-44del	NP_000248.2:n.3727-48_3727-44del
XM_017021340.1:c.3727-48_3727-44del	XP_016876829.1:n.3727-48_3727-44del
NM_000257.4:c.3727-48_3727-44del MANE Select	NP_000248.2:n.3727-48_3727-44del