Canonical Allele Identifier: CA2685450030

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147485849-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147485850del , CM000669.2:g.147485850del	GRCh38
NC_000007.13:g.147182942del , CM000669.1:g.147182942del	GRCh37
NC_000007.12:g.146813875del	NCBI36
NG_007092.2:g.1374490del
NG_007092.3:g.1374850del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1671-85del MANE Select	ENSP00000354778.3:n.1671-85del
ENST00000636870.1:n.1533-85del
ENST00000637694.1:n.1574-85del
ENST00000637825.1:n.1154-85del
ENST00000638117.1:n.1574-85del
ENST00000361727.7:c.1671-85del	ENSP00000354778.3:n.1671-85del
NM_014141.5:c.1671-85del	NP_054860.1:n.1671-85del
XM_006715919.1:c.159-85del	XP_006715982.1:n.159-85del
XM_017011950.2:c.1671-85del	XP_016867439.1:n.1671-85del
NM_014141.6:c.1671-85del MANE Select	NP_054860.1:n.1671-85del