Canonical Allele Identifier: CA732876715

Gene: SIPA1L2

Linked Data

• dbSNP Id: rs1216590060
• gnomAD v2: 1-232756348-CCAGACGCACAGCGACAGCAGCCAT-C
• gnomAD v3: 1-232620602-CCAGACGCACAGCGACAGCAGCCAT-C
• gnomAD v4: 1-232620602-CCAGACGCACAGCGACAGCAGCCAT-C
• MyVariant Identifiers: chr1:g.232756349_232756372del (hg19) ; chr1:g.232620603_232620626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.232620608_232620631del , CM000663.2:g.232620608_232620631del	GRCh38
NC_000001.10:g.232756354_232756377del , CM000663.1:g.232756354_232756377del	GRCh37
NC_000001.9:g.230822977_230823000del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674635.1:c.-319+9243_-319+9266del MANE Select	ENSP00000502693.1:n.-319+9243_-319+9266del
ENST00000674749.1:c.-575+9243_-575+9266del	ENSP00000502328.1:n.-575+9243_-575+9266del
ENST00000674801.1:c.-319+9804_-319+9827del	ENSP00000502186.1:n.-319+9804_-319+9827del
ENST00000675407.1:c.-396+9243_-396+9266del	ENSP00000502580.1:n.-396+9243_-396+9266del
ENST00000675685.1:c.-319+9804_-319+9827del	ENSP00000501553.1:n.-319+9804_-319+9827del
ENST00000676213.1:c.-270+9804_-270+9827del	ENSP00000501897.1:n.-270+9804_-270+9827del
XM_005273211.1:c.-319+9243_-319+9266del	XP_005273268.1:n.-319+9243_-319+9266del
XM_005273212.3:c.-347+9243_-347+9266del	XP_005273269.1:n.-347+9243_-347+9266del
XM_005273213.3:c.-270+9243_-270+9266del	XP_005273270.1:n.-270+9243_-270+9266del
XM_006711798.2:c.-413+9243_-413+9266del	XP_006711861.1:n.-413+9243_-413+9266del
XM_011544242.1:c.-490+9243_-490+9266del	XP_011542544.1:n.-490+9243_-490+9266del
XM_011544243.1:c.-396+9243_-396+9266del	XP_011542545.1:n.-396+9243_-396+9266del
XM_011544244.1:c.-270+9804_-270+9827del	XP_011542546.1:n.-270+9804_-270+9827del
XM_011544245.1:c.-490+9243_-490+9266del	XP_011542547.1:n.-490+9243_-490+9266del
XM_005273211.2:c.-319+9243_-319+9266del	XP_005273268.1:n.-319+9243_-319+9266del
XM_005273212.4:c.-347+9243_-347+9266del	XP_005273269.1:n.-347+9243_-347+9266del
XM_005273213.4:c.-270+9243_-270+9266del	XP_005273270.1:n.-270+9243_-270+9266del
XM_011544243.2:c.-396+9243_-396+9266del	XP_011542545.1:n.-396+9243_-396+9266del
XM_017001896.1:c.-319+9804_-319+9827del	XP_016857385.1:n.-319+9804_-319+9827del
XM_017001897.2:c.-319+9243_-319+9266del	XP_016857386.1:n.-319+9243_-319+9266del
XM_017001898.2:c.-319+9804_-319+9827del	XP_016857387.1:n.-319+9804_-319+9827del
NM_001377488.1:c.-319+9804_-319+9827del	NP_001364417.1:n.-319+9804_-319+9827del
NM_020808.5:c.-319+9243_-319+9266del MANE Select	NP_065859.3:n.-319+9243_-319+9266del