Canonical Allele Identifier: CA565951282

Gene: SLC17A1

Linked Data

• dbSNP Id: rs1428433832
• gnomAD v2: 6-25787775-TC-T
• gnomAD v3: 6-25787547-TC-T
• gnomAD v4: 6-25787547-TC-T
• MyVariant Identifiers: chr6:g.25787776del (hg19) ; chr6:g.25787548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25787548del , CM000668.2:g.25787548del	GRCh38
NC_000006.11:g.25787776del , CM000668.1:g.25787776del	GRCh37
NC_000006.10:g.25895755del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000244527.10:c.*3-4330del MANE Select	ENSP00000244527.4:n.*3-4330del
ENST00000244527.8:c.*3-4330del	ENSP00000244527.4:n.*3-4330del
ENST00000377886.6:c.*658-4330del	ENSP00000367118.2:n.*658-4330del
NM_005074.3:c.*3-4330del	NP_005065.2:n.*3-4330del
XM_011514818.1:c.1179-4330del	XP_011513120.1:n.1179-4330del
XM_011514818.2:c.1329-4330del	XP_011513120.2:n.1329-4330del
XM_017011200.1:c.*3-4330del	XP_016866689.1:n.*3-4330del
XM_017011201.2:c.*2+11235del	XP_016866690.1:n.*2+11235del
NM_005074.5:c.*3-4330del MANE Select	NP_005065.2:n.*3-4330del