Canonical Allele Identifier: CA1082946066

Gene: SLC36A3

Linked Data

• gnomAD v3: 5-151279266-C-CGAGGACTCCCTGGCTCGGCCAGGCTGAGTTATAGGACCCCCTTATGTGTAG
• gnomAD v4: 5-151279266-C-CGAGGACTCCCTGGCTCGGCCAGGCTGAGTTATAGGACCCCCTTATGTGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151279266_151279267insGAGGACTCCCTGGCTCGGCCAGGCTGAGTTATAGGACCCCCTTATGTGTAG , CM000667.2:g.151279266_151279267insGAGGACTCCCTGGCTCGGCCAGGCTGAGTTATAGGACCCCCTTATGTGTAG	GRCh38
NC_000005.9:g.150658827_150658828insGAGGACTCCCTGGCTCGGCCAGGCTGAGTTATAGGACCCCCTTATGTGTAG , CM000667.1:g.150658827_150658828insGAGGACTCCCTGGCTCGGCCAGGCTGAGTTATAGGACCCCCTTATGTGTAG	GRCh37
NC_000005.8:g.150639020_150639021insGAGGACTCCCTGGCTCGGCCAGGCTGAGTTATAGGACCCCCTTATGTGTAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335230.8:c.1145-1606_1145-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC MANE Select	ENSP00000334750.3:n.1145-1606_1145-1605insCTACACATAAGGGGGTCCT...
ENST00000335230.7:c.1145-1606_1145-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	ENSP00000334750.3:n.1145-1606_1145-1605insCTACACATAAGGGGGTCCT...
ENST00000377713.3:c.1268-1606_1268-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	ENSP00000366942.3:n.1268-1606_1268-1605insCTACACATAAGGGGGTCCT...
ENST00000423071.2:n.3045-1606_3045-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC
NM_001145017.1:c.1268-1606_1268-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	NP_001138489.1:n.1268-1606_1268-1605insCTACACATAAGGGGGTCCTATA...
NM_181774.3:c.1145-1606_1145-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	NP_861439.3:n.1145-1606_1145-1605insCTACACATAAGGGGGTCCTATAACT...
XM_006714781.1:c.995-1606_995-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_006714844.1:n.995-1606_995-1605insCTACACATAAGGGGGTCCTATAAC...
XM_011537626.1:c.1139-1606_1139-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535928.1:n.1139-1606_1139-1605insCTACACATAAGGGGGTCCTATA...
XM_011537627.1:c.1067-1606_1067-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535929.1:n.1067-1606_1067-1605insCTACACATAAGGGGGTCCTATA...
XM_011537628.1:c.1001-1606_1001-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535930.1:n.1001-1606_1001-1605insCTACACATAAGGGGGTCCTATA...
XM_011537629.1:c.975-1606_975-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535931.1:n.975-1606_975-1605insCTACACATAAGGGGGTCCTATAAC...
XM_011537630.1:c.800-1606_800-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535932.1:n.800-1606_800-1605insCTACACATAAGGGGGTCCTATAAC...
XM_011537631.1:c.800-1606_800-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535933.1:n.800-1606_800-1605insCTACACATAAGGGGGTCCTATAAC...
XM_011537632.1:c.800-1606_800-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535934.1:n.800-1606_800-1605insCTACACATAAGGGGGTCCTATAAC...
XM_011537633.1:c.656-1606_656-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535935.1:n.656-1606_656-1605insCTACACATAAGGGGGTCCTATAAC...
XR_427775.1:n.1593-1606_1593-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC
XM_011537627.3:c.1067-1606_1067-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535929.1:n.1067-1606_1067-1605insCTACACATAAGGGGGTCCTATA...
XM_011537629.3:c.975-1606_975-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535931.1:n.975-1606_975-1605insCTACACATAAGGGGGTCCTATAAC...
XM_011537630.2:c.800-1606_800-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535932.1:n.800-1606_800-1605insCTACACATAAGGGGGTCCTATAAC...
XM_011537631.2:c.800-1606_800-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	XP_011535933.1:n.800-1606_800-1605insCTACACATAAGGGGGTCCTATAAC...
XR_427775.3:n.1577-1606_1577-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC
NM_001145017.2:c.1268-1606_1268-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC	NP_001138489.1:n.1268-1606_1268-1605insCTACACATAAGGGGGTCCTATA...
NM_181774.4:c.1145-1606_1145-1605insCTACACATAAGGGGGTCCTATAACTCAGCCTGGCCGAGCCAGGGAGTCCTC MANE Select	NP_861439.3:n.1145-1606_1145-1605insCTACACATAAGGGGGTCCTATAACT...