Allele Registry

HGVS	Genome Assembly
NC_000001.11:g.171636690_171636694delinsCCAAA , CM000663.2:g.171636690_171636694delinsCCAAA	GRCh38
NC_000001.10:g.171605830_171605834delinsCCAAA , CM000663.1:g.171605830_171605834delinsCCAAA	GRCh37
NC_000001.9:g.169872453_169872457delinsCCAAA	NCBI36
NG_008859.1:g.20940_20944delinsTTTGG

HGVS	Amino-acid Change
ENST00000037502.11:c.746_750delinsTTTGG (MYOC) MANE Select	ENSP00000037502.5:p.Val249=
ENST00000637303.1:c.235-1940_235-1936delinsCCAAA (MYOCOS)	ENSP00000490048.1:n.235-1940_235-1936delinsCCAAA
ENST00000638471.1:c.84_88delinsTTTGG (MYOC)	ENSP00000491206.1:n.84_88delinsTTTGG
ENST00000037502.10:c.746_750delinsTTTGG (MYOC)	ENSP00000037502.5:p.Val249=
ENST00000614688.1:c.746_750delinsTTTGG (MYOC)	ENSP00000478680.1:p.Val249=
NM_000261.1:c.746_750delinsTTTGG (MYOC)	NP_000252.1:p.Val249=
NM_000261.2:c.746_750delinsTTTGG (MYOC) MANE Select	NP_000252.1:p.Val249=