Canonical Allele Identifier: CA2123465590

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416158_23416159delinsGA , CM000676.2:g.23416158_23416159delinsGA GRCh38
NC_000014.8:g.23885367_23885368delinsGA , CM000676.1:g.23885367_23885368delinsGA GRCh37
NC_000014.7:g.22955207_22955208delinsGA NCBI36
NG_007884.1:g.24503_24504delinsTC , LRG_384:g.24503_24504delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4798_4799delinsTC (MYH7) MANE Select ENSP00000347507.3:p.Ser1600=
ENST00000355349.3:c.4798_4799delinsTC (MYH7) ENSP00000347507.3:p.Ser1600=
NM_000257.3:c.4798_4799delinsTC (MYH7) NP_000248.2:p.Ser1600=
NR_126491.1:n.419_420delinsGA (MHRT)
XM_017021340.1:c.4798_4799delinsTC (MYH7) XP_016876829.1:p.Ser1600=
NM_000257.4:c.4798_4799delinsTC (MYH7) MANE Select NP_000248.2:p.Ser1600=