Canonical Allele Identifier: CA623841762

Gene: SLC38A8

Linked Data

• dbSNP Id: rs869210132
• gnomAD v2: 16-84065805-GTT-G
• gnomAD v3: 16-84032200-GTT-G
• gnomAD v4: 16-84032200-GTT-G
• MyVariant Identifiers: chr16:g.84065807_84065808del (hg19) ; chr16:g.84032202_84032203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84032205_84032206del , CM000678.2:g.84032205_84032206del	GRCh38
NC_000016.9:g.84065810_84065811del , CM000678.1:g.84065810_84065811del	GRCh37
NC_000016.8:g.82623311_82623312del	NCBI36
NG_034136.1:g.14956_14957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299709.8:c.531-234_531-233del MANE Select	ENSP00000299709.3:n.531-234_531-233del
ENST00000299709.7:c.531-234_531-233del	ENSP00000299709.3:n.531-234_531-233del
ENST00000568178.1:c.531-234_531-233del	ENSP00000457737.1:n.531-234_531-233del
NM_001080442.2:c.531-234_531-233del	NP_001073911.1:n.531-234_531-233del
XM_011522872.1:c.531-234_531-233del	XP_011521174.1:n.531-234_531-233del
XM_017022946.1:c.531-234_531-233del	XP_016878435.1:n.531-234_531-233del
NM_001080442.3:c.531-234_531-233del MANE Select	NP_001073911.1:n.531-234_531-233del