Canonical Allele Identifier: CA2607358572

Gene: CAPN9

Linked Data

• dbSNP Id: rs2102915812
• gnomAD v3: 1-230787171-GAAGT-G
• gnomAD v4: 1-230787171-GAAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230787176_230787179del , CM000663.2:g.230787176_230787179del	GRCh38
NC_000001.10:g.230922922_230922925del , CM000663.1:g.230922922_230922925del	GRCh37
NC_000001.9:g.228989545_228989548del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271971.7:c.1519-346_1519-343del MANE Select	ENSP00000271971.2:n.1519-346_1519-343del
ENST00000271971.6:c.1519-346_1519-343del	ENSP00000271971.2:n.1519-346_1519-343del
ENST00000354537.1:c.1441-346_1441-343del	ENSP00000346538.1:n.1441-346_1441-343del
ENST00000366666.6:c.1330-346_1330-343del	ENSP00000355626.2:n.1330-346_1330-343del
NM_006615.2:c.1519-346_1519-343del	NP_006606.1:n.1519-346_1519-343del
NM_016452.1:c.1441-346_1441-343del	NP_057536.1:n.1441-346_1441-343del
XM_005273010.2:c.1330-346_1330-343del	XP_005273067.1:n.1330-346_1330-343del
XM_011544017.1:c.1519-346_1519-343del	XP_011542319.1:n.1519-346_1519-343del
XM_011544018.1:c.1441-346_1441-343del	XP_011542320.1:n.1441-346_1441-343del
XM_011544019.1:c.1330-346_1330-343del	XP_011542321.1:n.1330-346_1330-343del
XM_011544020.1:c.934-346_934-343del	XP_011542322.1:n.934-346_934-343del
XR_949127.1:n.1734-346_1734-343del
NM_001319676.1:c.1330-346_1330-343del	NP_001306605.1:n.1330-346_1330-343del
NM_016452.2:c.1441-346_1441-343del	NP_057536.1:n.1441-346_1441-343del
XM_011544019.2:c.1330-346_1330-343del	XP_011542321.1:n.1330-346_1330-343del
XM_017000098.1:c.1435-346_1435-343del	XP_016855587.1:n.1435-346_1435-343del
XM_017000099.1:c.934-346_934-343del	XP_016855588.1:n.934-346_934-343del
XM_024452513.1:c.565-346_565-343del	XP_024308281.1:n.565-346_565-343del
XM_024452514.1:c.565-346_565-343del	XP_024308282.1:n.565-346_565-343del
XR_001736933.1:n.1616-346_1616-343del
XR_001738518.1:n.84+7938_84+7941del
NM_006615.3:c.1519-346_1519-343del MANE Select	NP_006606.1:n.1519-346_1519-343del
NM_001319676.2:c.1330-346_1330-343del	NP_001306605.1:n.1330-346_1330-343del
NM_016452.3:c.1441-346_1441-343del	NP_057536.1:n.1441-346_1441-343del