Canonical Allele Identifier: CA2123448001

Gene: MYH7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23420639_23420640delinsTA , CM000676.2:g.23420639_23420640delinsTA	GRCh38
NC_000014.8:g.23889848_23889849delinsTA , CM000676.1:g.23889848_23889849delinsTA	GRCh37
NC_000014.7:g.22959688_22959689delinsTA	NCBI36
NG_007884.1:g.20022_20023delinsTA , LRG_384:g.20022_20023delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3336+318_3336+319delinsTA MANE Select	ENSP00000347507.3:n.3336+318_3336+319delinsTA
ENST00000355349.3:c.3336+318_3336+319delinsTA	ENSP00000347507.3:n.3336+318_3336+319delinsTA
NM_000257.3:c.3336+318_3336+319delinsTA	NP_000248.2:n.3336+318_3336+319delinsTA
XR_245686.3:n.3444+318_3444+319delinsTA
XM_017021340.1:c.3336+318_3336+319delinsTA	XP_016876829.1:n.3336+318_3336+319delinsTA
NM_000257.4:c.3336+318_3336+319delinsTA MANE Select	NP_000248.2:n.3336+318_3336+319delinsTA