Canonical Allele Identifier: CA1616755231

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25787611_25787612delinsCT , CM000668.2:g.25787611_25787612delinsCT	GRCh38
NC_000006.11:g.25787839_25787840delinsCT , CM000668.1:g.25787839_25787840delinsCT	GRCh37
NC_000006.10:g.25895818_25895819delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.*3-4394_*3-4393delinsAG MANE Select	ENSP00000244527.4:n.*3-4394_*3-4393delinsAG
ENST00000244527.8:c.*3-4394_*3-4393delinsAG	ENSP00000244527.4:n.*3-4394_*3-4393delinsAG
ENST00000377886.6:c.*658-4394_*658-4393delinsAG	ENSP00000367118.2:n.*658-4394_*658-4393delinsAG
NM_005074.3:c.*3-4394_*3-4393delinsAG	NP_005065.2:n.*3-4394_*3-4393delinsAG
XM_011514818.1:c.1179-4394_1179-4393delinsAG	XP_011513120.1:n.1179-4394_1179-4393delinsAG
XM_011514818.2:c.1329-4394_1329-4393delinsAG	XP_011513120.2:n.1329-4394_1329-4393delinsAG
XM_017011200.1:c.*3-4394_*3-4393delinsAG	XP_016866689.1:n.*3-4394_*3-4393delinsAG
XM_017011201.2:c.*2+11171_*2+11172delinsAG	XP_016866690.1:n.*2+11171_*2+11172delinsAG
NM_005074.5:c.*3-4394_*3-4393delinsAG MANE Select	NP_005065.2:n.*3-4394_*3-4393delinsAG