Canonical Allele Identifier: CA3318253

Gene: ARSB

Linked Data

• ClinVar Variation Id: 2707042
• ClinVar RCV Id: RCV003496288
• dbSNP Id: rs771587875
• ExAC: 5:78264811 CAT / C
• gnomAD v2: 5-78264811-CAT-C
• gnomAD v3: 5-78968988-CAT-C
• gnomAD v4: 5-78968988-CAT-C
• MyVariant Identifiers: chr5:g.78264812_78264813del (hg19) ; chr5:g.78968989_78968990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78968989_78968990del , CM000667.2:g.78968989_78968990del	GRCh38
NC_000005.9:g.78264812_78264813del , CM000667.1:g.78264812_78264813del	GRCh37
NC_000005.8:g.78300568_78300569del	NCBI36
NG_007089.1:g.22545_22546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.499+16_499+17del MANE Select	ENSP00000264914.4:n.499+16_499+17del
ENST00000565165.2:c.499+16_499+17del	ENSP00000456339.2:n.499+16_499+17del
ENST00000264914.8:c.499+16_499+17del	ENSP00000264914.4:n.499+16_499+17del
ENST00000396151.7:c.499+16_499+17del	ENSP00000379455.3:n.499+16_499+17del
ENST00000565165.1:c.499+16_499+17del	ENSP00000456339.1:n.499+16_499+17del
NM_000046.3:c.499+16_499+17del	NP_000037.2:n.499+16_499+17del
NM_198709.2:c.499+16_499+17del	NP_942002.1:n.499+16_499+17del
XM_005248506.3:c.499+16_499+17del	XP_005248563.1:n.499+16_499+17del
XM_006714615.2:c.499+16_499+17del	XP_006714678.1:n.499+16_499+17del
XM_011543390.1:c.499+16_499+17del	XP_011541692.1:n.499+16_499+17del
XM_011543391.1:c.499+16_499+17del	XP_011541693.1:n.499+16_499+17del
XM_011543392.1:c.499+16_499+17del	XP_011541694.1:n.499+16_499+17del
XM_011543393.1:c.499+16_499+17del	XP_011541695.1:n.499+16_499+17del
NM_000046.4:c.499+16_499+17del	NP_000037.2:n.499+16_499+17del
XM_011543391.3:c.499+16_499+17del	XP_011541693.1:n.499+16_499+17del
XM_011543392.3:c.499+16_499+17del	XP_011541694.1:n.499+16_499+17del
XM_011543393.2:c.499+16_499+17del	XP_011541695.1:n.499+16_499+17del
XM_017009471.2:c.499+16_499+17del	XP_016864960.1:n.499+16_499+17del
XR_001742065.2:n.570+16_570+17del
XR_001742066.2:n.570+16_570+17del
NM_000046.5:c.499+16_499+17del MANE Select	NP_000037.2:n.499+16_499+17del
NM_198709.3:c.499+16_499+17del	NP_942002.1:n.499+16_499+17del