Canonical Allele Identifier: CA961068960
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs1892213010
gnomAD v3: 14-23416351-CAG-C
gnomAD v4: 14-23416351-CAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416352_23416353del , CM000676.2:g.23416352_23416353del GRCh38
NC_000014.8:g.23885561_23885562del , CM000676.1:g.23885561_23885562del GRCh37
NC_000014.7:g.22955401_22955402del NCBI36
NG_007884.1:g.24309_24310del , LRG_384:g.24309_24310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4645-41_4645-40del (MYH7) MANE Select ENSP00000347507.3:n.4645-41_4645-40del
ENST00000355349.3:c.4645-41_4645-40del (MYH7) ENSP00000347507.3:n.4645-41_4645-40del
NM_000257.3:c.4645-41_4645-40del (MYH7) NP_000248.2:n.4645-41_4645-40del
NR_126491.1:n.558+55_558+56del (MHRT)
XM_017021340.1:c.4645-41_4645-40del (MYH7) XP_016876829.1:n.4645-41_4645-40del
NM_000257.4:c.4645-41_4645-40del (MYH7) MANE Select NP_000248.2:n.4645-41_4645-40del
Search 100 bp 5'
Search 100 bp 3'