Canonical Allele Identifier: CA1956619831

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628195_20628213delinsAAAGATTTGCCTCTGGCCT , CM000673.2:g.20628195_20628213delinsAAAGATTTGCCTCTGGCCT	GRCh38
NC_000011.9:g.20649741_20649759delinsAAAGATTTGCCTCTGGCCT , CM000673.1:g.20649741_20649759delinsAAAGATTTGCCTCTGGCCT	GRCh37
NC_000011.8:g.20606317_20606335delinsAAAGATTTGCCTCTGGCCT	NCBI36
NG_013086.1:g.33796_33814delinsAAAGATTTGCCTCTGGCCT
NG_013086.2:g.33796_33814delinsAAAGATTTGCCTCTGGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT MANE Select	ENSP00000434364.2:n.1499+112_1499+130delinsAAAGATTTGCCTCTGGCC...
ENST00000298923.11:c.*796+112_*796+130delinsAAAGATTTGCCTCTGGCCT	ENSP00000298923.7:n.*796+112_*796+130delinsAAAGATTTGCCTCTGGCC...
ENST00000525748.5:c.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT	ENSP00000434364.1:n.1499+112_1499+130delinsAAAGATTTGCCTCTGGCC...
NM_004211.3:c.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT	NP_004202.2:n.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT
XM_005253225.1:c.797+112_797+130delinsAAAGATTTGCCTCTGGCCT	XP_005253282.1:n.797+112_797+130delinsAAAGATTTGCCTCTGGCCT
XM_011520473.1:c.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT	XP_011518775.1:n.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT
NM_001318369.1:c.797+112_797+130delinsAAAGATTTGCCTCTGGCCT	NP_001305298.1:n.797+112_797+130delinsAAAGATTTGCCTCTGGCCT
NM_004211.4:c.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT	NP_004202.3:n.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT
XM_017018544.2:c.623+112_623+130delinsAAAGATTTGCCTCTGGCCT	XP_016874033.1:n.623+112_623+130delinsAAAGATTTGCCTCTGGCCT
XM_017018545.2:c.458+112_458+130delinsAAAGATTTGCCTCTGGCCT	XP_016874034.1:n.458+112_458+130delinsAAAGATTTGCCTCTGGCCT
NM_001318369.2:c.797+112_797+130delinsAAAGATTTGCCTCTGGCCT	NP_001305298.1:n.797+112_797+130delinsAAAGATTTGCCTCTGGCCT
NM_004211.5:c.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT MANE Select	NP_004202.4:n.1499+112_1499+130delinsAAAGATTTGCCTCTGGCCT