Canonical Allele Identifier: CA129958850

Gene: SPARC

Linked Data

• ClinVar Variation Id: 2920766
• ClinVar RCV Id: RCV003756647 ; RCV004546811
• dbSNP Id: rs71757813
• gnomAD v2: 5-151043016-CTA-C
• gnomAD v3: 5-151663455-CTA-C
• gnomAD v4: 5-151663455-CTA-C
• MyVariant Identifiers: chr5:g.151043017_151043018del (hg19) ; chr5:g.151663456_151663457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151663457_151663458del , CM000667.2:g.151663457_151663458del	GRCh38
NC_000005.9:g.151043018_151043019del , CM000667.1:g.151043018_151043019del	GRCh37
NC_000005.8:g.151023211_151023212del	NCBI36
NG_042174.1:g.28598_28599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231061.9:c.*114_*115del MANE Select	ENSP00000231061.4:n.*114_*115del
ENST00000231061.8:c.*114_*115del	ENSP00000231061.4:n.*114_*115del
ENST00000520687.1:n.629_630del
NM_001309443.1:c.*114_*115del	NP_001296372.1:n.*114_*115del
NM_001309444.1:c.1024_1025del	NP_001296373.1:p.Ter342AspextTer?
NM_003118.3:c.*114_*115del	NP_003109.1:n.*114_*115del
NM_003118.4:c.*114_*115del MANE Select	NP_003109.1:n.*114_*115del
NM_001309443.2:c.*114_*115del	NP_001296372.1:n.*114_*115del
NM_001309444.2:c.1024_1025del	NP_001296373.1:p.Ter342AspextTer?