Canonical Allele Identifier: CA044072

Gene: MYH7 MHRT

Linked Data

• dbSNP Id: rs749695436
• ExAC: 14:23885309 T / TTCCATCTTCTTCTACTTCAGTCTGGAGCTGGGACAGGTCAGCA
• MyVariant Identifiers: chr14:g.23885309_23885310insTCCATCTTCTTCTACTTCAGTCTGGAGCTGGGACAGGTCAGCA (hg19) ; chr14:g.23416100_23416101insTCCATCTTCTTCTACTTCAGTCTGGAGCTGGGACAGGTCAGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416113_23416114insACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCT , CM000676.2:g.23416113_23416114insACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCT	GRCh38
NC_000014.8:g.23885322_23885323insACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCT , CM000676.1:g.23885322_23885323insACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCT	GRCh37
NC_000014.7:g.22955162_22955163insACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCT	NCBI36
NG_007884.1:g.24561_24562insTGCTGACCTGTCCCAGCTCCAGACTGAAGTAGAAGAAGATGGA , LRG_384:g.24561_24562insTGCTGACCTGTCCCAGCTCCAGACTGAAGTAGAAGAAGATGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4856_4857insTGCTGACCTGTCCCAGCTCCAGACTGAAGTAGAAGAAGATGGA (MYH7) MANE Select	ENSP00000347507.3:p.Glu1619AspfsTer20
ENST00000355349.3:c.4856_4857insTGCTGACCTGTCCCAGCTCCAGACTGAAGTAGAAGAAGATGGA (MYH7)	ENSP00000347507.3:p.Glu1619AspfsTer20
NM_000257.3:c.4856_4857insTGCTGACCTGTCCCAGCTCCAGACTGAAGTAGAAGAAGATGGA (MYH7)	NP_000248.2:p.Glu1619AspfsTer20
NR_126491.1:n.374_375insACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCT (MHRT)
XM_017021340.1:c.4856_4857insTGCTGACCTGTCCCAGCTCCAGACTGAAGTAGAAGAAGATGGA (MYH7)	XP_016876829.1:p.Glu1619AspfsTer20
NM_000257.4:c.4856_4857insTGCTGACCTGTCCCAGCTCCAGACTGAAGTAGAAGAAGATGGA (MYH7) MANE Select	NP_000248.2:p.Glu1619AspfsTer20