Canonical Allele Identifier: CA2624231884
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23420074-TTCTTGTTCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420078_23420086del , CM000676.2:g.23420078_23420086del GRCh38
NC_000014.8:g.23889287_23889295del , CM000676.1:g.23889287_23889295del GRCh37
NC_000014.7:g.22959127_22959135del NCBI36
NG_007884.1:g.20579_20587del , LRG_384:g.20579_20587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3488_3496del MANE Select ENSP00000347507.3:p.Met1163_Lys1165del
ENST00000355349.3:c.3488_3496del ENSP00000347507.3:p.Met1163_Lys1165del
NM_000257.3:c.3488_3496del NP_000248.2:p.Met1163_Lys1165del
XM_017021340.1:c.3488_3496del XP_016876829.1:p.Met1163_Lys1165del
NM_000257.4:c.3488_3496del MANE Select NP_000248.2:p.Met1163_Lys1165del
Search 100 bp 5'
Search 100 bp 3'