Canonical Allele Identifier: CA2123418193
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23396472_23396473delinsAG , CM000676.2:g.23396472_23396473delinsAG GRCh38
NC_000014.8:g.23865681_23865682delinsAG , CM000676.1:g.23865681_23865682delinsAG GRCh37
NC_000014.7:g.22935521_22935522delinsAG NCBI36
NG_023444.1:g.16805_16806delinsCT , LRG_389:g.16805_16806delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2293-53_2293-52delinsCT MANE Select ENSP00000386041.3:n.2293-53_2293-52delinsCT
ENST00000356287.3:c.2293-53_2293-52delinsCT ENSP00000348634.3:n.2293-53_2293-52delinsCT
ENST00000405093.7:c.2293-53_2293-52delinsCT ENSP00000386041.3:n.2293-53_2293-52delinsCT
NM_002471.3:c.2293-53_2293-52delinsCT , LRG_389t1:c.2293-53_2293-52delinsCT NP_002462.2:n.2293-53_2293-52delinsCT
NM_002471.4:c.2293-53_2293-52delinsCT MANE Select NP_002462.2:n.2293-53_2293-52delinsCT