Canonical Allele Identifier: CA623841756

Gene: SLC38A8

Linked Data

• dbSNP Id: rs1567700872
• gnomAD v2: 16-84065781-TGTTGTTGTTTTGTTG-T
• gnomAD v3: 16-84032176-TGTTGTTGTTTTGTTG-T
• gnomAD v4: 16-84032176-TGTTGTTGTTTTGTTG-T
• MyVariant Identifiers: chr16:g.84065782_84065796del (hg19) ; chr16:g.84032177_84032191del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84032177_84032191del , CM000678.2:g.84032177_84032191del	GRCh38
NC_000016.9:g.84065782_84065796del , CM000678.1:g.84065782_84065796del	GRCh37
NC_000016.8:g.82623283_82623297del	NCBI36
NG_034136.1:g.14967_14981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299709.8:c.531-223_531-209del MANE Select	ENSP00000299709.3:n.531-223_531-209del
ENST00000299709.7:c.531-223_531-209del	ENSP00000299709.3:n.531-223_531-209del
ENST00000568178.1:c.531-223_531-209del	ENSP00000457737.1:n.531-223_531-209del
NM_001080442.2:c.531-223_531-209del	NP_001073911.1:n.531-223_531-209del
XM_011522872.1:c.531-223_531-209del	XP_011521174.1:n.531-223_531-209del
XM_017022946.1:c.531-223_531-209del	XP_016878435.1:n.531-223_531-209del
NM_001080442.3:c.531-223_531-209del MANE Select	NP_001073911.1:n.531-223_531-209del