Canonical Allele Identifier: CA308133406

Gene: CAPN12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38736889_38736890del , CM000681.2:g.38736889_38736890del	GRCh38
NC_000019.9:g.39227529_39227530del , CM000681.1:g.39227529_39227530del	GRCh37
NC_000019.8:g.43919369_43919370del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144691.4:c.1362+268_1362+269del MANE Select	NP_653292.2:n.1362+268_1362+269del
ENST00000328867.9:c.1362+268_1362+269del MANE Select	ENSP00000331636.3:n.1362+268_1362+269del
ENST00000328867.8:c.1362+268_1362+269del	ENSP00000331636.3:n.1362+268_1362+269del
ENST00000597716.1:n.104_105del
ENST00000601953.5:c.915+268_915+269del	ENSP00000473156.1:n.915+268_915+269del
XM_011526518.1:c.1389+268_1389+269del	XP_011524820.1:n.1389+268_1389+269del
XM_011526519.1:c.1389+268_1389+269del	XP_011524821.1:n.1389+268_1389+269del
XM_011526520.1:c.1389+268_1389+269del	XP_011524822.1:n.1389+268_1389+269del
XM_011526521.1:c.1389+268_1389+269del	XP_011524823.1:n.1389+268_1389+269del
XM_011526522.1:c.1389+268_1389+269del	XP_011524824.1:n.1389+268_1389+269del
XM_011526523.1:c.1389+268_1389+269del	XP_011524825.1:n.1389+268_1389+269del
XM_011526524.1:c.804+268_804+269del	XP_011524826.1:n.804+268_804+269del
XM_011526525.1:c.468+268_468+269del	XP_011524827.1:n.468+268_468+269del
XM_017026355.2:c.1362+268_1362+269del	XP_016881844.1:n.1362+268_1362+269del
XM_017026356.2:c.1362+268_1362+269del	XP_016881845.1:n.1362+268_1362+269del
XM_017026357.2:c.1362+268_1362+269del	XP_016881846.1:n.1362+268_1362+269del
XM_017026358.2:c.1362+268_1362+269del	XP_016881847.1:n.1362+268_1362+269del
XM_017026359.2:c.1362+268_1362+269del	XP_016881848.1:n.1362+268_1362+269del
XM_017026360.2:c.1362+268_1362+269del	XP_016881849.1:n.1362+268_1362+269del
XM_017026361.2:c.1362+268_1362+269del	XP_016881850.1:n.1362+268_1362+269del
XM_017026362.2:c.1362+268_1362+269del	XP_016881851.1:n.1362+268_1362+269del
XM_017026363.2:c.1362+268_1362+269del	XP_016881852.1:n.1362+268_1362+269del
XM_017026364.1:c.777+268_777+269del	XP_016881853.1:n.777+268_777+269del
XM_017026365.2:c.1362+268_1362+269del	XP_016881854.1:n.1362+268_1362+269del
XR_001753606.2:n.1372+268_1372+269del
XR_001753607.2:n.1372+268_1372+269del
XR_001753608.2:n.1372+268_1372+269del
XR_001753609.2:n.1372+268_1372+269del
XR_001753610.2:n.1372+268_1372+269del
XR_001753611.2:n.1372+268_1372+269del
XR_935749.1:n.1698+268_1698+269del
XR_935750.1:n.1698+268_1698+269del