Canonical Allele Identifier: CA2645306894

Gene: SLC6A9

Linked Data

• gnomAD v4: 1-44000662-TCCGGCCAGGTGCGGGAGCTCCCACTGTCCCTCCGCTGGGTCCCAAGAGATGGACACATGGCCAAGGGGCAGCGGGGGAAGGGAGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44000672_44000758del , CM000663.2:g.44000672_44000758del	GRCh38
NC_000001.10:g.44466344_44466430del , CM000663.1:g.44466344_44466430del	GRCh37
NC_000001.9:g.44238931_44239017del	NCBI36
NG_050929.1:g.35744_35830del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372310.8:c.1536+18_1536+104del MANE Select	ENSP00000361384.4:n.1536+18_1536+104del
ENST00000673836.1:c.1536+18_1536+104del	ENSP00000501314.1:n.1536+18_1536+104del
ENST00000357730.6:c.1593+18_1593+104del	ENSP00000350362.2:n.1593+18_1593+104del
ENST00000360584.6:c.1755+18_1755+104del	ENSP00000353791.2:n.1755+18_1755+104del
ENST00000372306.7:c.1624+18_1624+104del	ENSP00000361380.3:n.1624+18_1624+104del
ENST00000372307.7:c.1341+18_1341+104del	ENSP00000361381.3:n.1341+18_1341+104del
ENST00000372310.7:c.1536+18_1536+104del	ENSP00000361384.3:n.1536+18_1536+104del
ENST00000475075.6:c.1203+18_1203+104del	ENSP00000434460.1:n.1203+18_1203+104del
NM_001024845.2:c.1536+18_1536+104del	NP_001020016.1:n.1536+18_1536+104del
NM_001261380.1:c.1548+18_1548+104del	NP_001248309.1:n.1548+18_1548+104del
NM_006934.3:c.1593+18_1593+104del	NP_008865.2:n.1593+18_1593+104del
NM_201649.3:c.1755+18_1755+104del	NP_964012.2:n.1755+18_1755+104del
NR_048548.1:n.1796+18_1796+104del
NR_048549.1:n.1519+18_1519+104del
XM_011542017.1:c.1755+18_1755+104del	XP_011540319.1:n.1755+18_1755+104del
NM_001328626.1:c.1203+18_1203+104del	NP_001315555.1:n.1203+18_1203+104del
NM_001328627.1:c.1473+18_1473+104del	NP_001315556.1:n.1473+18_1473+104del
NM_001328628.1:c.1341+18_1341+104del	NP_001315557.1:n.1341+18_1341+104del
NM_001328629.1:c.1536+18_1536+104del	NP_001315558.1:n.1536+18_1536+104del
NM_001328630.1:c.1203+18_1203+104del	NP_001315559.1:n.1203+18_1203+104del
XM_011542017.2:c.1755+18_1755+104del	XP_011540319.1:n.1755+18_1755+104del
XM_017002152.2:c.1455+18_1455+104del	XP_016857641.1:n.1455+18_1455+104del
XM_017002153.2:c.1422+18_1422+104del	XP_016857642.1:n.1422+18_1422+104del
XM_024449295.1:c.1341+18_1341+104del	XP_024305063.1:n.1341+18_1341+104del
NM_001024845.3:c.1536+18_1536+104del MANE Select	NP_001020016.1:n.1536+18_1536+104del
NM_001261380.2:c.1548+18_1548+104del	NP_001248309.1:n.1548+18_1548+104del
NM_001328626.2:c.1203+18_1203+104del	NP_001315555.1:n.1203+18_1203+104del
NM_001328630.2:c.1203+18_1203+104del	NP_001315559.1:n.1203+18_1203+104del
NM_006934.4:c.1593+18_1593+104del	NP_008865.2:n.1593+18_1593+104del
NM_201649.4:c.1755+18_1755+104del	NP_964012.2:n.1755+18_1755+104del
NR_048548.2:n.1619+18_1619+104del