Canonical Allele Identifier: CA604582641

Gene: CPNE8

Linked Data

• dbSNP Id: rs1427588688
• gnomAD v2: 12-39050510-GAACT-G
• gnomAD v3: 12-38656708-GAACT-G
• gnomAD v4: 12-38656708-GAACT-G
• MyVariant Identifiers: chr12:g.39050511_39050514del (hg19) ; chr12:g.38656709_38656712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38656712_38656715del , CM000674.2:g.38656712_38656715del	GRCh38
NC_000012.11:g.39050514_39050517del , CM000674.1:g.39050514_39050517del	GRCh37
NC_000012.10:g.37336781_37336784del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331366.10:c.1507-2642_1507-2639del MANE Select	ENSP00000329748.5:n.1507-2642_1507-2639de...
ENST00000331366.9:c.1507-2642_1507-2639del	ENSP00000329748.5:n.1507-2642_1507-2639de...
ENST00000360449.3:c.1471-2642_1471-2639del	ENSP00000353633.3:n.1471-2642_1471-2639de...
ENST00000538596.6:c.514-2642_514-2639del	ENSP00000439237.2:n.514-2642_514-2639del
ENST00000546603.5:n.337-2642_337-2639del
ENST00000547417.1:n.268-2642_268-2639del
ENST00000552259.5:n.281-9619_281-9616del
NM_153634.2:c.1507-2642_1507-2639del	NP_705898.1:n.1507-2642_1507-2639del
XR_944501.1:n.2219-2642_2219-2639del
XM_017018852.1:c.1024-2642_1024-2639del	XP_016874341.1:n.1024-2642_1024-2639del
XR_944501.3:n.1675-2642_1675-2639del
NM_153634.3:c.1507-2642_1507-2639del MANE Select	NP_705898.1:n.1507-2642_1507-2639del