Canonical Allele Identifier: CA2624235143
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23423430-A-AACAGAAACACAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423433_23423434insGAAACACACACA , CM000676.2:g.23423433_23423434insGAAACACACACA GRCh38
NC_000014.8:g.23892642_23892643insGAAACACACACA , CM000676.1:g.23892642_23892643insGAAACACACACA GRCh37
NC_000014.7:g.22962482_22962483insGAAACACACACA NCBI36
NG_007884.1:g.17231_17232insGTGTGTTTCTGT , LRG_384:g.17231_17232insGTGTGTTTCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+116_3099+117insGTGTGTTTCTGT MANE Select ENSP00000347507.3:n.3099+116_3099+117insGTGTGTTTCTGT
ENST00000355349.3:c.3099+116_3099+117insGTGTGTTTCTGT ENSP00000347507.3:n.3099+116_3099+117insGTGTGTTTCTGT
NM_000257.3:c.3099+116_3099+117insGTGTGTTTCTGT NP_000248.2:n.3099+116_3099+117insGTGTGTTTCTGT
XR_245686.3:n.3205+116_3205+117insGTGTGTTTCTGT
XM_017021340.1:c.3099+116_3099+117insGTGTGTTTCTGT XP_016876829.1:n.3099+116_3099+117insGTGTGTTTCTGT
NM_000257.4:c.3099+116_3099+117insGTGTGTTTCTGT MANE Select NP_000248.2:n.3099+116_3099+117insGTGTGTTTCTGT
Search 100 bp 5'
Search 100 bp 3'