Canonical Allele Identifier: CA805666261

Gene: SLC36A3

Linked Data

• dbSNP Id: rs1361862222
• gnomAD v3: 5-151279375-ATCT-A
• gnomAD v4: 5-151279375-ATCT-A
• MyVariant Identifiers: chr5:g.150658937_150658939del (hg19) ; chr5:g.151279376_151279378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151279381_151279383del , CM000667.2:g.151279381_151279383del	GRCh38
NC_000005.9:g.150658942_150658944del , CM000667.1:g.150658942_150658944del	GRCh37
NC_000005.8:g.150639135_150639137del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335230.8:c.1144+1636_1144+1638del MANE Select	ENSP00000334750.3:n.1144+1636_1144+1638del
ENST00000335230.7:c.1144+1636_1144+1638del	ENSP00000334750.3:n.1144+1636_1144+1638del
ENST00000377713.3:c.1267+1636_1267+1638del	ENSP00000366942.3:n.1267+1636_1267+1638del
ENST00000423071.2:n.3044+1636_3044+1638del
NM_001145017.1:c.1267+1636_1267+1638del	NP_001138489.1:n.1267+1636_1267+1638del
NM_181774.3:c.1144+1636_1144+1638del	NP_861439.3:n.1144+1636_1144+1638del
XM_006714781.1:c.995-1717_995-1715del	XP_006714844.1:n.995-1717_995-1715del
XM_011537626.1:c.1138+1636_1138+1638del	XP_011535928.1:n.1138+1636_1138+1638del
XM_011537627.1:c.1066+1636_1066+1638del	XP_011535929.1:n.1066+1636_1066+1638del
XM_011537628.1:c.1000+1636_1000+1638del	XP_011535930.1:n.1000+1636_1000+1638del
XM_011537629.1:c.975-1717_975-1715del	XP_011535931.1:n.975-1717_975-1715del
XM_011537630.1:c.799+1636_799+1638del	XP_011535932.1:n.799+1636_799+1638del
XM_011537631.1:c.799+1636_799+1638del	XP_011535933.1:n.799+1636_799+1638del
XM_011537632.1:c.799+1636_799+1638del	XP_011535934.1:n.799+1636_799+1638del
XM_011537633.1:c.655+1636_655+1638del	XP_011535935.1:n.655+1636_655+1638del
XR_427775.1:n.1592+1636_1592+1638del
XM_011537627.3:c.1066+1636_1066+1638del	XP_011535929.1:n.1066+1636_1066+1638del
XM_011537629.3:c.975-1717_975-1715del	XP_011535931.1:n.975-1717_975-1715del
XM_011537630.2:c.799+1636_799+1638del	XP_011535932.1:n.799+1636_799+1638del
XM_011537631.2:c.799+1636_799+1638del	XP_011535933.1:n.799+1636_799+1638del
XR_427775.3:n.1576+1636_1576+1638del
NM_001145017.2:c.1267+1636_1267+1638del	NP_001138489.1:n.1267+1636_1267+1638del
NM_181774.4:c.1144+1636_1144+1638del MANE Select	NP_861439.3:n.1144+1636_1144+1638del