Canonical Allele Identifier: CA2123451163
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431338_23431342delinsGGAGA , CM000676.2:g.23431338_23431342delinsGGAGA GRCh38
NC_000014.8:g.23900547_23900551delinsGGAGA , CM000676.1:g.23900547_23900551delinsGGAGA GRCh37
NC_000014.7:g.22970387_22970391delinsGGAGA NCBI36
NG_007884.1:g.9320_9324delinsTCTCC , LRG_384:g.9320_9324delinsTCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.796+76_796+80delinsTCTCC MANE Select ENSP00000347507.3:n.796+76_796+80delinsTCTCC
ENST00000355349.3:c.796+76_796+80delinsTCTCC ENSP00000347507.3:n.796+76_796+80delinsTCTCC
NM_000257.3:c.796+76_796+80delinsTCTCC NP_000248.2:n.796+76_796+80delinsTCTCC
XR_245686.3:n.902+76_902+80delinsTCTCC
XM_017021340.1:c.796+76_796+80delinsTCTCC XP_016876829.1:n.796+76_796+80delinsTCTCC
NM_000257.4:c.796+76_796+80delinsTCTCC MANE Select NP_000248.2:n.796+76_796+80delinsTCTCC