Canonical Allele Identifier: CA613317685

Gene: MYH7

Linked Data

• dbSNP Id: rs1204594613
• gnomAD v2: 14-23888899-AAAG-A
• gnomAD v3: 14-23419690-AAAG-A
• gnomAD v4: 14-23419690-AAAG-A
• MyVariant Identifiers: chr14:g.23888900_23888902del (hg19) ; chr14:g.23419691_23419693del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419695_23419697del , CM000676.2:g.23419695_23419697del	GRCh38
NC_000014.8:g.23888904_23888906del , CM000676.1:g.23888904_23888906del	GRCh37
NC_000014.7:g.22958744_22958746del	NCBI36
NG_007884.1:g.20969_20971del , LRG_384:g.20969_20971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3727-84_3727-82del MANE Select	ENSP00000347507.3:n.3727-84_3727-82del
ENST00000355349.3:c.3727-84_3727-82del	ENSP00000347507.3:n.3727-84_3727-82del
NM_000257.3:c.3727-84_3727-82del	NP_000248.2:n.3727-84_3727-82del
XM_017021340.1:c.3727-84_3727-82del	XP_016876829.1:n.3727-84_3727-82del
NM_000257.4:c.3727-84_3727-82del MANE Select	NP_000248.2:n.3727-84_3727-82del