Canonical Allele Identifier: CA1120703462

Gene: SLC1A1

Linked Data

• dbSNP Id: rs1820837616
• gnomAD v3: 9-4507225-ACT-A
• gnomAD v4: 9-4507225-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4507228_4507229del , CM000671.2:g.4507228_4507229del	GRCh38
NC_000009.11:g.4507228_4507229del , CM000671.1:g.4507228_4507229del	GRCh37
NC_000009.10:g.4497228_4497229del	NCBI36
NG_017044.1:g.21802_21803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262352.8:c.91+16458_91+16459del MANE Select	ENSP00000262352.3:n.91+16458_91+16459del
ENST00000262352.7:c.91+16458_91+16459del	ENSP00000262352.3:n.91+16458_91+16459del
NM_004170.5:c.91+16458_91+16459del	NP_004161.4:n.91+16458_91+16459del
XM_011518007.1:c.92-12600_92-12599del	XP_011516309.1:n.92-12600_92-12599del
XM_011518010.1:c.91+16458_91+16459del	XP_011516312.1:n.91+16458_91+16459del
XM_017015042.1:c.92-12600_92-12599del	XP_016870531.1:n.92-12600_92-12599del
XM_017015043.1:c.91+16458_91+16459del	XP_016870532.1:n.91+16458_91+16459del
NM_004170.6:c.91+16458_91+16459del MANE Select	NP_004161.4:n.91+16458_91+16459del