Canonical Allele Identifier: CA2695038938

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693994-TTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693999_153694001del , CM000685.2:g.153693999_153694001del	GRCh38
NC_000023.10:g.152959454_152959456del , CM000685.1:g.152959454_152959456del	GRCh37
NC_000023.9:g.152612648_152612650del	NCBI36
NG_012016.1:g.10703_10705del
NG_012016.2:g.10703_10705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1236_1238del MANE Select	ENSP00000253122.5:p.Leu413del
ENST00000253122.9:c.1236_1238del	ENSP00000253122.5:p.Leu413del
ENST00000413787.1:c.258-205_258-203del	ENSP00000400463.1:n.258-205_258-203del
ENST00000430077.6:c.891_893del	ENSP00000403041.2:p.Leu298del
ENST00000442457.1:c.290_292del
ENST00000457723.1:c.220_222del	ENSP00000394742.1:p.Ala74del
ENST00000485324.1:n.1269_1271del
NM_001142805.1:c.1206_1208del	NP_001136277.1:p.Leu403del
NM_001142806.1:c.891_893del	NP_001136278.1:p.Leu298del
NM_005629.3:c.1236_1238del	NP_005620.1:p.Leu413del
NM_005629.4:c.1236_1238del MANE Select	NP_005620.1:p.Leu413del
NM_001142805.2:c.1206_1208del	NP_001136277.1:p.Leu403del