Canonical Allele Identifier: CA613317628
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1442014426
gnomAD v2: 14-23884291-ATT-A
gnomAD v3: 14-23415082-ATT-A
gnomAD v4: 14-23415082-ATT-A
MyVariant Identifiers: chr14:g.23884292_23884293del (hg19) chr14:g.23415083_23415084del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415083_23415084del , CM000676.2:g.23415083_23415084del GRCh38
NC_000014.8:g.23884292_23884293del , CM000676.1:g.23884292_23884293del GRCh37
NC_000014.7:g.22954132_22954133del NCBI36
NG_007884.1:g.25578_25579del , LRG_384:g.25578_25579del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5470_5471del MANE Select ENSP00000347507.3:p.Asn1824Ter
ENST00000355349.3:c.5470_5471del ENSP00000347507.3:p.Asn1824Ter
NM_000257.3:c.5470_5471del NP_000248.2:p.Asn1824Ter
XM_017021340.1:c.5470_5471del XP_016876829.1:p.Asn1824Ter
NM_000257.4:c.5470_5471del MANE Select NP_000248.2:p.Asn1824Ter
Search 100 bp 5'
Search 100 bp 3'