Canonical Allele Identifier: CA188364583

Gene: SLC1A1

Linked Data

• dbSNP Id: rs113683841
• gnomAD v2: 9-4507241-GA-G
• gnomAD v3: 9-4507241-GA-G
• gnomAD v4: 9-4507241-GA-G
• MyVariant Identifiers: chr9:g.4507242del (hg19) ; chr9:g.4507242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4507252del , CM000671.2:g.4507252del	GRCh38
NC_000009.11:g.4507252del , CM000671.1:g.4507252del	GRCh37
NC_000009.10:g.4497252del	NCBI36
NG_017044.1:g.21826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262352.8:c.91+16482del MANE Select	ENSP00000262352.3:n.91+16482del
ENST00000262352.7:c.91+16482del	ENSP00000262352.3:n.91+16482del
NM_004170.5:c.91+16482del	NP_004161.4:n.91+16482del
XM_011518007.1:c.92-12576del	XP_011516309.1:n.92-12576del
XM_011518010.1:c.91+16482del	XP_011516312.1:n.91+16482del
XM_017015042.1:c.92-12576del	XP_016870531.1:n.92-12576del
XM_017015043.1:c.91+16482del	XP_016870532.1:n.91+16482del
NM_004170.6:c.91+16482del MANE Select	NP_004161.4:n.91+16482del