Canonical Allele Identifier: CA257825754

Gene: MYH7

Linked Data

• dbSNP Id: rs780088450
• gnomAD v4: 14-23431285-CAG-C
• MyVariant Identifiers: chr14:g.23900495_23900496del (hg19) ; chr14:g.23431286_23431287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23431289_23431290del , CM000676.2:g.23431289_23431290del	GRCh38
NC_000014.8:g.23900498_23900499del , CM000676.1:g.23900498_23900499del	GRCh37
NC_000014.7:g.22970338_22970339del	NCBI36
NG_007884.1:g.9375_9376del , LRG_384:g.9375_9376del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.796+131_796+132del MANE Select	ENSP00000347507.3:n.796+131_796+132del
ENST00000355349.3:c.796+131_796+132del	ENSP00000347507.3:n.796+131_796+132del
NM_000257.3:c.796+131_796+132del	NP_000248.2:n.796+131_796+132del
XR_245686.3:n.902+131_902+132del
XM_017021340.1:c.796+131_796+132del	XP_016876829.1:n.796+131_796+132del
NM_000257.4:c.796+131_796+132del MANE Select	NP_000248.2:n.796+131_796+132del