Canonical Allele Identifier: CA5958204

Gene: SLC35C1

Linked Data

• dbSNP Id: rs768602407
• ExAC: 11:45827573 TCTTCGTCAC / T
• MyVariant Identifiers: chr11:g.45827574_45827582del (hg19) ; chr11:g.45806023_45806031del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806027_45806035del , CM000673.2:g.45806027_45806035del	GRCh38
NC_000011.9:g.45827578_45827586del , CM000673.1:g.45827578_45827586del	GRCh37
NC_000011.8:g.45784154_45784162del	NCBI36
NG_009875.1:g.6956_6964del , LRG_107:g.6956_6964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.187_195del	ENSP00000432145.2:p.Val63_Phe65del
ENST00000314134.4:c.226_234del MANE Select	ENSP00000313318.3:p.Val76_Phe78del
ENST00000314134.3:c.226_234del	ENSP00000313318.3:p.Val76_Phe78del
ENST00000442528.2:c.187_195del	ENSP00000412408.2:p.Val63_Phe65del
ENST00000526817.1:c.187_195del	ENSP00000432145.1:p.Val63_Phe65del
ENST00000530471.1:c.187_195del	ENSP00000432669.1:p.Val63_Phe65del
NM_001145265.1:c.187_195del	NP_001138737.1:p.Val63_Phe65del
NM_001145266.1:c.187_195del	NP_001138738.1:p.Val63_Phe65del
NM_018389.4:c.226_234del , LRG_107t1:c.226_234del	NP_060859.4:p.Val76_Phe78del
XM_011520203.1:c.226_234del	XP_011518505.1:p.Val76_Phe78del
XM_011520203.3:c.226_234del	XP_011518505.1:p.Val76_Phe78del
NM_001145265.2:c.187_195del	NP_001138737.1:p.Val63_Phe65del
NM_018389.5:c.226_234del MANE Select	NP_060859.4:p.Val76_Phe78del