Canonical Allele Identifier: CA604608335

Gene: CPNE8

Linked Data

• dbSNP Id: rs1312600685
• gnomAD v2: 12-39253266-ATGGAT-A
• gnomAD v3: 12-38859464-ATGGAT-A
• gnomAD v4: 12-38859464-ATGGAT-A
• MyVariant Identifiers: chr12:g.39253267_39253271del (hg19) ; chr12:g.38859465_38859469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38859469_38859473del , CM000674.2:g.38859469_38859473del	GRCh38
NC_000012.11:g.39253271_39253275del , CM000674.1:g.39253271_39253275del	GRCh37
NC_000012.10:g.37539538_37539542del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331366.10:c.187-10807_187-10803del MANE Select	ENSP00000329748.5:n.187-10807_187-10803del
ENST00000331366.9:c.187-10807_187-10803del	ENSP00000329748.5:n.187-10807_187-10803del
ENST00000360449.3:c.151-10807_151-10803del	ENSP00000353633.3:n.151-10807_151-10803del
ENST00000550863.1:c.-297-10807_-297-10803del	ENSP00000447761.1:n.-297-10807_-297-10803del
NM_153634.2:c.187-10807_187-10803del	NP_705898.1:n.187-10807_187-10803del
XM_011537951.1:c.187-10807_187-10803del	XP_011536253.1:n.187-10807_187-10803del
XM_011537952.1:c.187-10807_187-10803del	XP_011536254.1:n.187-10807_187-10803del
XR_245896.2:n.788-10807_788-10803del
XR_944501.1:n.788-10807_788-10803del
XM_011537951.3:c.187-10807_187-10803del	XP_011536253.1:n.187-10807_187-10803del
XM_011537952.3:c.187-10807_187-10803del	XP_011536254.1:n.187-10807_187-10803del
XM_017018852.1:c.-297-10807_-297-10803del	XP_016874341.1:n.-297-10807_-297-10803del
XR_245896.4:n.244-10807_244-10803del
XR_944501.3:n.244-10807_244-10803del
NM_153634.3:c.187-10807_187-10803del MANE Select	NP_705898.1:n.187-10807_187-10803del