Canonical Allele Identifier: CA16614085
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 407195
ClinVar RCV Id: RCV000473533 RCV001266493 RCV004539944
dbSNP Id: rs1064792935
MyVariant Identifiers: chr14:g.23889410_23889421dupCCTCCAGCTCCT (hg19) chr14:g.23889409_23889410insCCTCCAGCTCCT (hg19) chr14:g.23420201_23420212dupCCTCCAGCTCCT (hg38) chr14:g.23420200_23420201insCCTCCAGCTCCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420214_23420225dup , CM000676.2:g.23420214_23420225dup GRCh38
NC_000014.8:g.23889423_23889434dup , CM000676.1:g.23889423_23889434dup GRCh37
NC_000014.7:g.22959263_22959274dup NCBI36
NG_007884.1:g.20450_20461dup , LRG_384:g.20450_20461dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3359_3370dup MANE Select ENSP00000347507.3:p.Glu1123_Ala1124insGluGluLeuGlu
ENST00000355349.3:c.3359_3370dup ENSP00000347507.3:p.Glu1123_Ala1124insGluGluLeuGlu
NM_000257.3:c.3359_3370dup NP_000248.2:p.Glu1123_Ala1124insGluGluLeuGlu
XR_245686.3:n.3467_3478dup
XM_017021340.1:c.3359_3370dup XP_016876829.1:p.Glu1123_Ala1124insGluGluLeuGlu
NM_000257.4:c.3359_3370dup MANE Select NP_000248.2:p.Glu1123_Ala1124insGluGluLeuGlu
Search 100 bp 5'
Search 100 bp 3'