Canonical Allele Identifier: CA2693664888

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48904505-AAAACCCCCTCCAGGGGAAGGGGGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904507_48904531del , CM000685.2:g.48904507_48904531del	GRCh38
NC_000023.10:g.48761784_48761808del , CM000685.1:g.48761784_48761808del	GRCh37
NC_000023.9:g.48646728_48646752del	NCBI36
NG_015967.1:g.11590_11614del
NG_034300.1:g.12429_12453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1163+216_1163+240del MANE Select	ENSP00000247138.5:n.1163+216_1163+240del
ENST00000247138.10:c.1163+216_1163+240del	ENSP00000247138.5:n.1163+216_1163+240del
ENST00000376515.8:c.*60_*84del	ENSP00000365698.3:n.*60_*84del
ENST00000376521.6:c.*197_*221del	ENSP00000365704.1:n.*197_*221del
ENST00000376529.8:c.573+216_573+240del	ENSP00000365712.3:n.573+216_573+240del
ENST00000413561.7:c.941_965del
ENST00000445167.7:c.*60_*84del	ENSP00000402726.2:n.*60_*84del
ENST00000452555.7:c.*197_*221del	ENSP00000416002.2:n.*197_*221del
ENST00000616181.5:c.*197_*221del	ENSP00000478617.1:n.*197_*221del
ENST00000635285.1:c.*197_*221del	ENSP00000489484.1:n.*197_*221del
ENST00000635460.1:c.425-1065_425-1041del
ENST00000635589.1:c.*197_*221del	ENSP00000489197.1:n.*197_*221del
ENST00000635628.1:c.*1273_*1297del	ENSP00000489613.1:n.*1273_*1297del
NM_001032289.2:c.*60_*84del	NP_001027460.1:n.*60_*84del
NM_001042498.2:c.*197_*221del	NP_001035963.1:n.*197_*221del
NM_001282647.1:c.573+216_573+240del	NP_001269576.1:n.573+216_573+240del
NM_001282648.1:c.*60_*84del	NP_001269577.1:n.*60_*84del
NM_001282649.1:c.*197_*221del	NP_001269578.1:n.*197_*221del
NM_001282650.1:c.*197_*221del	NP_001269579.1:n.*197_*221del
NM_001282651.1:c.*197_*221del	NP_001269580.1:n.*197_*221del
NM_005660.2:c.1163+216_1163+240del	NP_005651.1:n.1163+216_1163+240del
NM_005660.3:c.1163+216_1163+240del MANE Select	NP_005651.1:n.1163+216_1163+240del
NM_001032289.3:c.*60_*84del	NP_001027460.1:n.*60_*84del
NM_001042498.3:c.*197_*221del	NP_001035963.1:n.*197_*221del
NM_001282647.2:c.573+216_573+240del	NP_001269576.1:n.573+216_573+240del
NM_001282649.2:c.*197_*221del	NP_001269578.1:n.*197_*221del
NM_001282650.2:c.*197_*221del	NP_001269579.1:n.*197_*221del
NM_001282651.2:c.*197_*221del	NP_001269580.1:n.*197_*221del
NM_001282648.2:c.*60_*84del	NP_001269577.1:n.*60_*84del