Canonical Allele Identifier: CA2685448890

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132237-T-TTTTACAGGGAAATTTACAGGGAAATTTTACAGGGAAATTTATTTCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132252_147132253insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT , CM000669.2:g.147132252_147132253insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT	GRCh38
NC_000007.13:g.146829344_146829345insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT , CM000669.1:g.146829344_146829345insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT	GRCh37
NC_000007.12:g.146460277_146460278insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT	NCBI36
NG_007092.2:g.1020892_1020893insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
NG_007092.3:g.1021252_1021253insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1091_1092insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
ENST00000636561.1:n.994_995insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
ENST00000636870.1:n.953_954insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
ENST00000637150.1:n.1020_1021insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
ENST00000637694.1:n.994_995insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
ENST00000637825.1:n.574_575insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
ENST00000638117.1:n.994_995insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
ENST00000361727.7:c.1091_1092insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
NM_014141.5:c.1091_1092insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
XM_017011950.2:c.1091_1092insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT
NM_014141.6:c.1091_1092insACAGGGAAATTTTACAGGGAAATTTATTTCAAATTTACAGGGAAATTT