Canonical Allele Identifier: CA2787933826

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611764_49611765insAAAAAC , CM000672.2:g.49611764_49611765insAAAAAC	GRCh38
NC_000010.10:g.50819810_50819811insAAAAAC , CM000672.1:g.50819810_50819811insAAAAAC	GRCh37
NC_000010.9:g.50489816_50489817insAAAAAC	NCBI36
NG_011797.1:g.7670_7671insAAAAAC
NG_053144.1:g.6464_6465insAAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1024_1025insAAAAAC (SLC18A3) MANE Select	ENSP00000363229.3:p.Val342delinsGluLysLeu
ENST00000339797.5:c.-69+2565_-69+2566insAAAAAC (CHAT)	ENSP00000343486.1:n.-69+2565_-69+2566insAAAAAC
ENST00000374115.4:c.1024_1025insAAAAAC (SLC18A3)	ENSP00000363229.3:p.Val342delinsGluLysLeu
NM_003055.2:c.1024_1025insAAAAAC (SLC18A3)	NP_003046.2:p.Val342delinsGluLysLeu
NM_020984.3:c.-69+2565_-69+2566insAAAAAC (CHAT)	NP_066264.3:n.-69+2565_-69+2566insAAAAAC
NM_003055.3:c.1024_1025insAAAAAC (SLC18A3) MANE Select	NP_003046.2:p.Val342delinsGluLysLeu
NM_020984.4:c.-69+2565_-69+2566insAAAAAC (CHAT)	NP_066264.4:n.-69+2565_-69+2566insAAAAAC