Canonical Allele Identifier: CA1956619895

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628346_20628348delinsCTG , CM000673.2:g.20628346_20628348delinsCTG	GRCh38
NC_000011.9:g.20649892_20649894delinsCTG , CM000673.1:g.20649892_20649894delinsCTG	GRCh37
NC_000011.8:g.20606468_20606470delinsCTG	NCBI36
NG_013086.1:g.33947_33949delinsCTG
NG_013086.2:g.33947_33949delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+263_1499+265delinsCTG MANE Select	ENSP00000434364.2:n.1499+263_1499+265delinsCTG
ENST00000298923.11:c.*796+263_*796+265delinsCTG	ENSP00000298923.7:n.*796+263_*796+265delinsCTG
ENST00000525748.5:c.1499+263_1499+265delinsCTG	ENSP00000434364.1:n.1499+263_1499+265delinsCTG
NM_004211.3:c.1499+263_1499+265delinsCTG	NP_004202.2:n.1499+263_1499+265delinsCTG
XM_005253225.1:c.797+263_797+265delinsCTG	XP_005253282.1:n.797+263_797+265delinsCTG
XM_011520473.1:c.1499+263_1499+265delinsCTG	XP_011518775.1:n.1499+263_1499+265delinsCTG
NM_001318369.1:c.797+263_797+265delinsCTG	NP_001305298.1:n.797+263_797+265delinsCTG
NM_004211.4:c.1499+263_1499+265delinsCTG	NP_004202.3:n.1499+263_1499+265delinsCTG
XM_017018544.2:c.623+263_623+265delinsCTG	XP_016874033.1:n.623+263_623+265delinsCTG
XM_017018545.2:c.458+263_458+265delinsCTG	XP_016874034.1:n.458+263_458+265delinsCTG
NM_001318369.2:c.797+263_797+265delinsCTG	NP_001305298.1:n.797+263_797+265delinsCTG
NM_004211.5:c.1499+263_1499+265delinsCTG MANE Select	NP_004202.4:n.1499+263_1499+265delinsCTG