Canonical Allele Identifier: CA2123457189
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425250_23425251delinsGA , CM000676.2:g.23425250_23425251delinsGA GRCh38
NC_000014.8:g.23894459_23894460delinsGA , CM000676.1:g.23894459_23894460delinsGA GRCh37
NC_000014.7:g.22964299_22964300delinsGA NCBI36
NG_007884.1:g.15411_15412delinsTC , LRG_384:g.15411_15412delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2423+31_2423+32delinsTC MANE Select ENSP00000347507.3:n.2423+31_2423+32delinsTC
ENST00000355349.3:c.2423+31_2423+32delinsTC ENSP00000347507.3:n.2423+31_2423+32delinsTC
NM_000257.3:c.2423+31_2423+32delinsTC NP_000248.2:n.2423+31_2423+32delinsTC
XR_245686.3:n.2529+31_2529+32delinsTC
XM_017021340.1:c.2423+31_2423+32delinsTC XP_016876829.1:n.2423+31_2423+32delinsTC
NM_000257.4:c.2423+31_2423+32delinsTC MANE Select NP_000248.2:n.2423+31_2423+32delinsTC