Canonical Allele Identifier: CA2123441803

Gene: MYH7

Linked Data

• dbSNP Id: rs1892288980
• gnomAD v4: 14-23417824-GGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417827_23417863del , CM000676.2:g.23417827_23417863del	GRCh38
NC_000014.8:g.23887036_23887072del , CM000676.1:g.23887036_23887072del	GRCh37
NC_000014.7:g.22956876_22956912del	NCBI36
NG_007884.1:g.22801_22837del , LRG_384:g.22801_22837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4170-175_4170-139del MANE Select	ENSP00000347507.3:n.4170-175_4170-139del
ENST00000355349.3:c.4170-175_4170-139del	ENSP00000347507.3:n.4170-175_4170-139del
NM_000257.3:c.4170-175_4170-139del	NP_000248.2:n.4170-175_4170-139del
XM_017021340.1:c.4170-175_4170-139del	XP_016876829.1:n.4170-175_4170-139del
NM_000257.4:c.4170-175_4170-139del MANE Select	NP_000248.2:n.4170-175_4170-139del