Canonical Allele Identifier: CA290789104

Gene: CNTNAP1 CCR10

Linked Data

• dbSNP Id: rs542658289
• gnomAD v4: 17-42682651-A-AG
• MyVariant Identifiers: chr17:g.40834669_40834670insG (hg19) ; chr17:g.42682651_42682652insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42682651_42682652insG , CM000679.2:g.42682651_42682652insG	GRCh38
NC_000017.10:g.40834669_40834670insG , CM000679.1:g.40834669_40834670insG	GRCh37
NC_000017.9:g.38088195_38088196insG	NCBI36
NG_042091.1:g.5038_5039insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.-179_-178insG (CNTNAP1) MANE Select	ENSP00000264638.3:n.-179_-178insG
ENST00000264638.8:c.-179_-178insG (CNTNAP1)	ENSP00000264638.3:n.-179_-178insG
ENST00000591568.1:c.-643+1164_-643+1165insC (CCR10)	ENSP00000467331.1:n.-643+1164_-643+1165insC
ENST00000591765.1:c.-974_-973insC (CCR10)	ENSP00000468135.1:n.-974_-973insC
NM_003632.2:c.-179_-178insG (CNTNAP1)	NP_003623.1:n.-179_-178insG
XM_005257748.4:c.-1199_-1198insG (CNTNAP1)	XP_005257805.1:n.-1199_-1198insG
XM_017025238.1:c.-179_-178insG (CNTNAP1)	XP_016880727.1:n.-179_-178insG
XM_024451011.1:c.-179_-178insG (CNTNAP1)	XP_024306779.1:n.-179_-178insG
NM_003632.3:c.-179_-178insG (CNTNAP1) MANE Select	NP_003623.1:n.-179_-178insG