Canonical Allele Identifier: CA613317956
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs1395176565
gnomAD v2: 14-23886555-G-GC
gnomAD v3: 14-23417346-G-GC
gnomAD v4: 14-23417346-G-GC
MyVariant Identifiers: chr14:g.23886555_23886556insC (hg19) chr14:g.23417346_23417347insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417352dup , CM000676.2:g.23417352dup GRCh38
NC_000014.8:g.23886561dup , CM000676.1:g.23886561dup GRCh37
NC_000014.7:g.22956401dup NCBI36
NG_007884.1:g.23315dup , LRG_384:g.23315dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4354-29dup (MYH7) MANE Select ENSP00000347507.3:n.4354-29dup
ENST00000355349.3:c.4354-29dup (MYH7) ENSP00000347507.3:n.4354-29dup
NM_000257.3:c.4354-29dup (MYH7) NP_000248.2:n.4354-29dup
NR_126491.1:n.792dup (MHRT)
XM_017021340.1:c.4354-29dup (MYH7) XP_016876829.1:n.4354-29dup
NM_000257.4:c.4354-29dup (MYH7) MANE Select NP_000248.2:n.4354-29dup
Search 100 bp 5'
Search 100 bp 3'