Canonical Allele Identifier: CA916081707
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 860786
ClinVar RCV Id: RCV001067157
dbSNP Id: rs1892272029
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417546_23417548dup , CM000676.2:g.23417546_23417548dup GRCh38
NC_000014.8:g.23886755_23886757dup , CM000676.1:g.23886755_23886757dup GRCh37
NC_000014.7:g.22956595_22956597dup NCBI36
NG_007884.1:g.23123_23125dup , LRG_384:g.23123_23125dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4317_4319dup (MYH7) MANE Select ENSP00000347507.3:p.Ala1440_Ala1441insAla
ENST00000355349.3:c.4317_4319dup (MYH7) ENSP00000347507.3:p.Ala1440_Ala1441insAla
NM_000257.3:c.4317_4319dup (MYH7) NP_000248.2:p.Ala1440_Ala1441insAla
NR_126491.1:n.827_829dup (MHRT)
XM_017021340.1:c.4317_4319dup (MYH7) XP_016876829.1:p.Ala1440_Ala1441insAla
NM_000257.4:c.4317_4319dup (MYH7) MANE Select NP_000248.2:p.Ala1440_Ala1441insAla
Search 100 bp 5'
Search 100 bp 3'