Canonical Allele Identifier: CA2636841033

Gene: UNC119

Linked Data

• gnomAD v4: 17-28552209-A-AGGAGAGGGGACTCGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28552212_28552228dup , CM000679.2:g.28552212_28552228dup	GRCh38
NC_000017.10:g.26879230_26879246dup , CM000679.1:g.26879230_26879246dup	GRCh37
NC_000017.9:g.23903357_23903373dup	NCBI36
NG_012302.1:g.5403_5419dup , LRG_341:g.5403_5419dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335765.9:c.220+112_220+128dup MANE Select	ENSP00000337040.3:n.220+112_220+128dup
ENST00000301032.8:c.220+112_220+128dup	ENSP00000301032.4:n.220+112_220+128dup
ENST00000335765.8:c.220+112_220+128dup	ENSP00000337040.3:n.220+112_220+128dup
ENST00000444148.1:c.220+112_221-118dup	ENSP00000414639.1:n.220+112_221-118dup
ENST00000481916.6:c.*1195+51825_*1195+51841dup	ENSP00000436369.2:n.*1195+51825_*1195+51841dup
ENST00000578434.1:n.288+112_289-118dup
ENST00000581945.1:c.212+112_212+128dup
NM_005148.3:c.220+112_220+128dup , LRG_341t1:c.220+112_220+128dup	NP_005139.1:n.220+112_220+128dup
NM_054035.2:c.220+112_220+128dup , LRG_341t2:c.220+112_220+128dup	NP_473376.1:n.220+112_220+128dup
XM_011525459.1:c.220+112_220+128dup	XP_011523761.1:n.220+112_220+128dup
NM_001330166.1:c.-94+112_-93-118dup	NP_001317095.1:n.-94+112_-93-118dup
XM_011525459.2:c.220+112_220+128dup	XP_011523761.1:n.220+112_220+128dup
NM_001330166.2:c.-94+112_-93-118dup	NP_001317095.1:n.-94+112_-93-118dup
NM_005148.4:c.220+112_220+128dup MANE Select	NP_005139.1:n.220+112_220+128dup