Canonical Allele Identifier: CA8200142

Gene: SLC38A8

Linked Data

• dbSNP Id: rs773469292
• ExAC: 16:84065434 CCCG / C
• gnomAD v2: 16-84065434-CCCG-C
• gnomAD v4: 16-84031829-CCCG-C
• MyVariant Identifiers: chr16:g.84065435_84065437del (hg19) ; chr16:g.84031830_84031832del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84031833_84031835del , CM000678.2:g.84031833_84031835del	GRCh38
NC_000016.9:g.84065438_84065440del , CM000678.1:g.84065438_84065440del	GRCh37
NC_000016.8:g.82622939_82622941del	NCBI36
NG_034136.1:g.15326_15328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299709.8:c.632+35_632+37del MANE Select	ENSP00000299709.3:n.632+35_632+37del
ENST00000299709.7:c.632+35_632+37del	ENSP00000299709.3:n.632+35_632+37del
ENST00000568178.1:c.632+35_632+37del	ENSP00000457737.1:n.632+35_632+37del
NM_001080442.2:c.632+35_632+37del	NP_001073911.1:n.632+35_632+37del
XM_011522872.1:c.632+35_632+37del	XP_011521174.1:n.632+35_632+37del
XM_017022946.1:c.632+35_632+37del	XP_016878435.1:n.632+35_632+37del
NM_001080442.3:c.632+35_632+37del MANE Select	NP_001073911.1:n.632+35_632+37del