Canonical Allele Identifier: CA221585079

Gene: SLC35C1

Linked Data

• dbSNP Id: rs1036257272
• gnomAD v4: 11-45805995-GCCCCTCCCTGCGGCTGGACAC-G
• MyVariant Identifiers: chr11:g.45827547_45827567del (hg19) ; chr11:g.45805996_45806016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806000_45806020del , CM000673.2:g.45806000_45806020del	GRCh38
NC_000011.9:g.45827551_45827571del , CM000673.1:g.45827551_45827571del	GRCh37
NC_000011.8:g.45784127_45784147del	NCBI36
NG_009875.1:g.6929_6949del , LRG_107:g.6929_6949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.160_180del	ENSP00000432145.2:p.Ser54_Pro60del
ENST00000314134.4:c.199_219del MANE Select	ENSP00000313318.3:p.Ser67_Pro73del
ENST00000314134.3:c.199_219del	ENSP00000313318.3:p.Ser67_Pro73del
ENST00000442528.2:c.160_180del	ENSP00000412408.2:p.Ser54_Pro60del
ENST00000526817.1:c.160_180del	ENSP00000432145.1:p.Ser54_Pro60del
ENST00000530471.1:c.160_180del	ENSP00000432669.1:p.Ser54_Pro60del
NM_001145265.1:c.160_180del	NP_001138737.1:p.Ser54_Pro60del
NM_001145266.1:c.160_180del	NP_001138738.1:p.Ser54_Pro60del
NM_018389.4:c.199_219del , LRG_107t1:c.199_219del	NP_060859.4:p.Ser67_Pro73del
XM_011520203.1:c.199_219del	XP_011518505.1:p.Ser67_Pro73del
XM_011520203.3:c.199_219del	XP_011518505.1:p.Ser67_Pro73del
NM_001145265.2:c.160_180del	NP_001138737.1:p.Ser54_Pro60del
NM_018389.5:c.199_219del MANE Select	NP_060859.4:p.Ser67_Pro73del