Canonical Allele Identifier: CA2580088005
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1694093
ClinVar RCV Id: RCV002261962
dbSNP Id: rs2138646436
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417532_23417534dup , CM000676.2:g.23417532_23417534dup GRCh38
NC_000014.8:g.23886741_23886743dup , CM000676.1:g.23886741_23886743dup GRCh37
NC_000014.7:g.22956581_22956583dup NCBI36
NG_007884.1:g.23128_23130dup , LRG_384:g.23128_23130dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4322_4324dup (MYH7) MANE Select ENSP00000347507.3:p.Ala1441_Leu1442insPro
ENST00000355349.3:c.4322_4324dup (MYH7) ENSP00000347507.3:p.Ala1441_Leu1442insPro
NM_000257.3:c.4322_4324dup (MYH7) NP_000248.2:p.Ala1441_Leu1442insPro
NR_126491.1:n.814-1_815dup (MHRT)
XM_017021340.1:c.4322_4324dup (MYH7) XP_016876829.1:p.Ala1441_Leu1442insPro
NM_000257.4:c.4322_4324dup (MYH7) MANE Select NP_000248.2:p.Ala1441_Leu1442insPro
Search 100 bp 5'
Search 100 bp 3'