Canonical Allele Identifier: CA645287901

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1557045439
• gnomAD v2: X-152959751-CCT-C
• gnomAD v4: X-153694296-CCT-C
• MyVariant Identifiers: chrX:g.152959752_152959753del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694299_153694300del , CM000685.2:g.153694299_153694300del	GRCh38
NC_000023.10:g.152959754_152959755del , CM000685.1:g.152959754_152959755del	GRCh37
NC_000023.9:g.152612948_152612949del	NCBI36
NG_012016.1:g.11003_11004del
NG_012016.2:g.11003_11004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+32_1392+33del MANE Select	ENSP00000253122.5:n.1392+32_1392+33del
ENST00000253122.9:c.1392+32_1392+33del	ENSP00000253122.5:n.1392+32_1392+33del
ENST00000413787.1:c.321+32_321+33del	ENSP00000400463.1:n.321+32_321+33del
ENST00000430077.6:c.1047+32_1047+33del	ENSP00000403041.2:n.1047+32_1047+33del
ENST00000442457.1:c.446+32_446+33del
ENST00000485324.1:n.1569_1570del
NM_001142805.1:c.1362+32_1362+33del	NP_001136277.1:n.1362+32_1362+33del
NM_001142806.1:c.1047+32_1047+33del	NP_001136278.1:n.1047+32_1047+33del
NM_005629.3:c.1392+32_1392+33del	NP_005620.1:n.1392+32_1392+33del
NM_005629.4:c.1392+32_1392+33del MANE Select	NP_005620.1:n.1392+32_1392+33del
NM_001142805.2:c.1362+32_1362+33del	NP_001136277.1:n.1362+32_1362+33del