Canonical Allele Identifier: CA1956619883

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628313_20628316delinsTTAC , CM000673.2:g.20628313_20628316delinsTTAC	GRCh38
NC_000011.9:g.20649859_20649862delinsTTAC , CM000673.1:g.20649859_20649862delinsTTAC	GRCh37
NC_000011.8:g.20606435_20606438delinsTTAC	NCBI36
NG_013086.1:g.33914_33917delinsTTAC
NG_013086.2:g.33914_33917delinsTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+230_1499+233delinsTTAC MANE Select	ENSP00000434364.2:n.1499+230_1499+233delinsTTAC
ENST00000298923.11:c.*796+230_*796+233delinsTTAC	ENSP00000298923.7:n.*796+230_*796+233delinsTTAC
ENST00000525748.5:c.1499+230_1499+233delinsTTAC	ENSP00000434364.1:n.1499+230_1499+233delinsTTAC
NM_004211.3:c.1499+230_1499+233delinsTTAC	NP_004202.2:n.1499+230_1499+233delinsTTAC
XM_005253225.1:c.797+230_797+233delinsTTAC	XP_005253282.1:n.797+230_797+233delinsTTAC
XM_011520473.1:c.1499+230_1499+233delinsTTAC	XP_011518775.1:n.1499+230_1499+233delinsTTAC
NM_001318369.1:c.797+230_797+233delinsTTAC	NP_001305298.1:n.797+230_797+233delinsTTAC
NM_004211.4:c.1499+230_1499+233delinsTTAC	NP_004202.3:n.1499+230_1499+233delinsTTAC
XM_017018544.2:c.623+230_623+233delinsTTAC	XP_016874033.1:n.623+230_623+233delinsTTAC
XM_017018545.2:c.458+230_458+233delinsTTAC	XP_016874034.1:n.458+230_458+233delinsTTAC
NM_001318369.2:c.797+230_797+233delinsTTAC	NP_001305298.1:n.797+230_797+233delinsTTAC
NM_004211.5:c.1499+230_1499+233delinsTTAC MANE Select	NP_004202.4:n.1499+230_1499+233delinsTTAC