Canonical Allele Identifier: CA982756116

Gene: UNC119

Linked Data

• gnomAD v3: 17-28552245-A-AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAAG
• gnomAD v4: 17-28552245-A-AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28552250_28552251insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG , CM000679.2:g.28552250_28552251insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG	GRCh38
NC_000017.10:g.26879268_26879269insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG , CM000679.1:g.26879268_26879269insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG	GRCh37
NC_000017.9:g.23903395_23903396insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAAGGGGGG	NCBI36
NG_012302.1:g.5383_5384insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_341:g.5383_5384insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335765.9:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000337040.3:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCC...
ENST00000301032.8:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000301032.4:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCC...
ENST00000335765.8:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000337040.3:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCC...
ENST00000444148.1:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000414639.1:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCC...
ENST00000481916.6:c.*1195+51805_*1195+51806insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000436369.2:n.*1195+51805_*1195+51806insCTTCCCCCCCCCCCC...
ENST00000578434.1:n.288+92_288+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000581945.1:c.212+92_212+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
NM_005148.3:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_341t1:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_005139.1:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_054035.2:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_341t2:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_473376.1:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
XM_011525459.1:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011523761.1:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_001330166.1:c.-94+92_-94+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_001317095.1:n.-94+92_-94+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCC...
XM_011525459.2:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011523761.1:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_001330166.2:c.-94+92_-94+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_001317095.1:n.-94+92_-94+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_005148.4:c.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select	NP_005139.1:n.220+92_220+93insCTTCCCCCCCCCCCCCCCCCCCCCCCCCCCC...