Canonical Allele Identifier: CA1226700497

Gene: CAPN9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230787192_230787195delinsGGGT , CM000663.2:g.230787192_230787195delinsGGGT	GRCh38
NC_000001.10:g.230922938_230922941delinsGGGT , CM000663.1:g.230922938_230922941delinsGGGT	GRCh37
NC_000001.9:g.228989561_228989564delinsGGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271971.7:c.1519-330_1519-327delinsGGGT MANE Select	ENSP00000271971.2:n.1519-330_1519-327delinsGGGT
ENST00000271971.6:c.1519-330_1519-327delinsGGGT	ENSP00000271971.2:n.1519-330_1519-327delinsGGGT
ENST00000354537.1:c.1441-330_1441-327delinsGGGT	ENSP00000346538.1:n.1441-330_1441-327delinsGGGT
ENST00000366666.6:c.1330-330_1330-327delinsGGGT	ENSP00000355626.2:n.1330-330_1330-327delinsGGGT
NM_006615.2:c.1519-330_1519-327delinsGGGT	NP_006606.1:n.1519-330_1519-327delinsGGGT
NM_016452.1:c.1441-330_1441-327delinsGGGT	NP_057536.1:n.1441-330_1441-327delinsGGGT
XM_005273010.2:c.1330-330_1330-327delinsGGGT	XP_005273067.1:n.1330-330_1330-327delinsGGGT
XM_011544017.1:c.1519-330_1519-327delinsGGGT	XP_011542319.1:n.1519-330_1519-327delinsGGGT
XM_011544018.1:c.1441-330_1441-327delinsGGGT	XP_011542320.1:n.1441-330_1441-327delinsGGGT
XM_011544019.1:c.1330-330_1330-327delinsGGGT	XP_011542321.1:n.1330-330_1330-327delinsGGGT
XM_011544020.1:c.934-330_934-327delinsGGGT	XP_011542322.1:n.934-330_934-327delinsGGGT
XR_949127.1:n.1734-330_1734-327delinsGGGT
NM_001319676.1:c.1330-330_1330-327delinsGGGT	NP_001306605.1:n.1330-330_1330-327delinsGGGT
NM_016452.2:c.1441-330_1441-327delinsGGGT	NP_057536.1:n.1441-330_1441-327delinsGGGT
XM_011544019.2:c.1330-330_1330-327delinsGGGT	XP_011542321.1:n.1330-330_1330-327delinsGGGT
XM_017000098.1:c.1435-330_1435-327delinsGGGT	XP_016855587.1:n.1435-330_1435-327delinsGGGT
XM_017000099.1:c.934-330_934-327delinsGGGT	XP_016855588.1:n.934-330_934-327delinsGGGT
XM_024452513.1:c.565-330_565-327delinsGGGT	XP_024308281.1:n.565-330_565-327delinsGGGT
XM_024452514.1:c.565-330_565-327delinsGGGT	XP_024308282.1:n.565-330_565-327delinsGGGT
XR_001736933.1:n.1616-330_1616-327delinsGGGT
XR_001738518.1:n.84+7918_84+7921delinsACCC
NM_006615.3:c.1519-330_1519-327delinsGGGT MANE Select	NP_006606.1:n.1519-330_1519-327delinsGGGT
NM_001319676.2:c.1330-330_1330-327delinsGGGT	NP_001306605.1:n.1330-330_1330-327delinsGGGT
NM_016452.3:c.1441-330_1441-327delinsGGGT	NP_057536.1:n.1441-330_1441-327delinsGGGT