Canonical Allele Identifier: CA2123456573
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434065_23434066delinsTA , CM000676.2:g.23434065_23434066delinsTA GRCh38
NC_000014.8:g.23903274_23903275delinsTA , CM000676.1:g.23903274_23903275delinsTA GRCh37
NC_000014.7:g.22973114_22973115delinsTA NCBI36
NG_007884.1:g.6596_6597delinsTA , LRG_384:g.6596_6597delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+128_-9+129delinsTA MANE Select ENSP00000347507.3:n.-9+128_-9+129delinsTA
ENST00000355349.3:c.-9+128_-9+129delinsTA ENSP00000347507.3:n.-9+128_-9+129delinsTA
NM_000257.3:c.-9+128_-9+129delinsTA NP_000248.2:n.-9+128_-9+129delinsTA
XR_245686.3:n.98+128_98+129delinsTA
XM_017021340.1:c.-8-326_-8-325delinsTA XP_016876829.1:n.-8-326_-8-325delinsTA
NM_000257.4:c.-9+128_-9+129delinsTA MANE Select NP_000248.2:n.-9+128_-9+129delinsTA
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