Canonical Allele Identifier: CA2123445174
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419512_23419524delinsCTGGTGAGGTCGT , CM000676.2:g.23419512_23419524delinsCTGGTGAGGTCGT GRCh38
NC_000014.8:g.23888721_23888733delinsCTGGTGAGGTCGT , CM000676.1:g.23888721_23888733delinsCTGGTGAGGTCGT GRCh37
NC_000014.7:g.22958561_22958573delinsCTGGTGAGGTCGT NCBI36
NG_007884.1:g.21138_21150delinsACGACCTCACCAG , LRG_384:g.21138_21150delinsACGACCTCACCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3812_3824delinsACGACCTCACCAG MANE Select ENSP00000347507.3:p.Asn1271=
ENST00000355349.3:c.3812_3824delinsACGACCTCACCAG ENSP00000347507.3:p.Asn1271=
NM_000257.3:c.3812_3824delinsACGACCTCACCAG NP_000248.2:p.Asn1271=
XM_017021340.1:c.3812_3824delinsACGACCTCACCAG XP_016876829.1:p.Asn1271=
NM_000257.4:c.3812_3824delinsACGACCTCACCAG MANE Select NP_000248.2:p.Asn1271=