Canonical Allele Identifier: CA2123456559
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434049_23434050delinsAC , CM000676.2:g.23434049_23434050delinsAC GRCh38
NC_000014.8:g.23903258_23903259delinsAC , CM000676.1:g.23903258_23903259delinsAC GRCh37
NC_000014.7:g.22973098_22973099delinsAC NCBI36
NG_007884.1:g.6612_6613delinsGT , LRG_384:g.6612_6613delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+144_-9+145delinsGT MANE Select ENSP00000347507.3:n.-9+144_-9+145delinsGT
ENST00000355349.3:c.-9+144_-9+145delinsGT ENSP00000347507.3:n.-9+144_-9+145delinsGT
NM_000257.3:c.-9+144_-9+145delinsGT NP_000248.2:n.-9+144_-9+145delinsGT
XR_245686.3:n.98+144_98+145delinsGT
XM_017021340.1:c.-8-310_-8-309delinsGT XP_016876829.1:n.-8-310_-8-309delinsGT
NM_000257.4:c.-9+144_-9+145delinsGT MANE Select NP_000248.2:n.-9+144_-9+145delinsGT
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