Canonical Allele Identifier: CA1956619849

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628256_20628257delinsGC , CM000673.2:g.20628256_20628257delinsGC	GRCh38
NC_000011.9:g.20649802_20649803delinsGC , CM000673.1:g.20649802_20649803delinsGC	GRCh37
NC_000011.8:g.20606378_20606379delinsGC	NCBI36
NG_013086.1:g.33857_33858delinsGC
NG_013086.2:g.33857_33858delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+173_1499+174delinsGC MANE Select	ENSP00000434364.2:n.1499+173_1499+174delinsGC
ENST00000298923.11:c.*796+173_*796+174delinsGC	ENSP00000298923.7:n.*796+173_*796+174delinsGC
ENST00000525748.5:c.1499+173_1499+174delinsGC	ENSP00000434364.1:n.1499+173_1499+174delinsGC
NM_004211.3:c.1499+173_1499+174delinsGC	NP_004202.2:n.1499+173_1499+174delinsGC
XM_005253225.1:c.797+173_797+174delinsGC	XP_005253282.1:n.797+173_797+174delinsGC
XM_011520473.1:c.1499+173_1499+174delinsGC	XP_011518775.1:n.1499+173_1499+174delinsGC
NM_001318369.1:c.797+173_797+174delinsGC	NP_001305298.1:n.797+173_797+174delinsGC
NM_004211.4:c.1499+173_1499+174delinsGC	NP_004202.3:n.1499+173_1499+174delinsGC
XM_017018544.2:c.623+173_623+174delinsGC	XP_016874033.1:n.623+173_623+174delinsGC
XM_017018545.2:c.458+173_458+174delinsGC	XP_016874034.1:n.458+173_458+174delinsGC
NM_001318369.2:c.797+173_797+174delinsGC	NP_001305298.1:n.797+173_797+174delinsGC
NM_004211.5:c.1499+173_1499+174delinsGC MANE Select	NP_004202.4:n.1499+173_1499+174delinsGC