Canonical Allele Identifier: CA2838528478

Gene: CNTNAP5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.124085398T>G , CM000664.2:g.124085398T>G	GRCh38
NC_000002.11:g.124842975T>G , CM000664.1:g.124842975T>G	GRCh37
NC_000002.10:g.124559445T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682447.1:c.82+59666T>G MANE Select	ENSP00000508115.1:n.82+59666T>G
ENST00000423939.2:n.447-49670T>G
ENST00000431078.1:c.82+59666T>G	ENSP00000399013.1:n.82+59666T>G
NM_130773.3:c.82+59666T>G	NP_570129.1:n.82+59666T>G
XM_006712258.1:c.82+59666T>G	XP_006712321.1:n.82+59666T>G
XM_017003316.1:c.82+59666T>G	XP_016858805.1:n.82+59666T>G
NM_001367498.1:c.82+59666T>G MANE Select	NP_001354427.1:n.82+59666T>G
NM_130773.4:c.82+59666T>G	NP_570129.1:n.82+59666T>G