Canonical Allele Identifier: CA1002733609

Gene: SLC35D1

Linked Data

• dbSNP Id: rs1645343755
• gnomAD v3: 1-67053953-AGGATTTCGCGGG-A
• gnomAD v4: 1-67053953-AGGATTTCGCGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053956_67053967del , CM000663.2:g.67053956_67053967del	GRCh38
NC_000001.10:g.67519639_67519650del , CM000663.1:g.67519639_67519650del	GRCh37
NC_000001.9:g.67292227_67292238del	NCBI36
NG_012933.1:g.5433_5444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.49_60del MANE Select	ENSP00000235345.5:p.Pro17_Ser20del
ENST00000235345.5:c.49_60del	ENSP00000235345.5:p.Pro17_Ser20del
NM_015139.2:c.49_60del	NP_055954.1:p.Pro17_Ser20del
XM_006710478.1:c.49_60del	XP_006710541.1:p.Pro17_Ser20del
XM_011541070.1:c.49_60del	XP_011539372.1:p.Pro17_Ser20del
XM_006710478.2:c.49_60del	XP_006710541.1:p.Pro17_Ser20del
XM_011541070.2:c.49_60del	XP_011539372.1:p.Pro17_Ser20del
XR_001737057.2:n.459_470del
XR_001737058.2:n.452_463del
NM_015139.3:c.49_60del MANE Select	NP_055954.1:p.Pro17_Ser20del