Canonical Allele Identifier: CA1227458853

Gene: SIPA1L2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.232620649_232620650delinsGC , CM000663.2:g.232620649_232620650delinsGC	GRCh38
NC_000001.10:g.232756395_232756396delinsGC , CM000663.1:g.232756395_232756396delinsGC	GRCh37
NC_000001.9:g.230823018_230823019delinsGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674635.1:c.-319+9219_-319+9220delinsGC MANE Select	ENSP00000502693.1:n.-319+9219_-319+9220delinsGC
ENST00000674749.1:c.-575+9219_-575+9220delinsGC	ENSP00000502328.1:n.-575+9219_-575+9220delinsGC
ENST00000674801.1:c.-319+9780_-319+9781delinsGC	ENSP00000502186.1:n.-319+9780_-319+9781delinsGC
ENST00000675407.1:c.-396+9219_-396+9220delinsGC	ENSP00000502580.1:n.-396+9219_-396+9220delinsGC
ENST00000675685.1:c.-319+9780_-319+9781delinsGC	ENSP00000501553.1:n.-319+9780_-319+9781delinsGC
ENST00000676213.1:c.-270+9780_-270+9781delinsGC	ENSP00000501897.1:n.-270+9780_-270+9781delinsGC
XM_005273211.1:c.-319+9219_-319+9220delinsGC	XP_005273268.1:n.-319+9219_-319+9220delinsGC
XM_005273212.3:c.-347+9219_-347+9220delinsGC	XP_005273269.1:n.-347+9219_-347+9220delinsGC
XM_005273213.3:c.-270+9219_-270+9220delinsGC	XP_005273270.1:n.-270+9219_-270+9220delinsGC
XM_006711798.2:c.-413+9219_-413+9220delinsGC	XP_006711861.1:n.-413+9219_-413+9220delinsGC
XM_011544242.1:c.-490+9219_-490+9220delinsGC	XP_011542544.1:n.-490+9219_-490+9220delinsGC
XM_011544243.1:c.-396+9219_-396+9220delinsGC	XP_011542545.1:n.-396+9219_-396+9220delinsGC
XM_011544244.1:c.-270+9780_-270+9781delinsGC	XP_011542546.1:n.-270+9780_-270+9781delinsGC
XM_011544245.1:c.-490+9219_-490+9220delinsGC	XP_011542547.1:n.-490+9219_-490+9220delinsGC
XM_005273211.2:c.-319+9219_-319+9220delinsGC	XP_005273268.1:n.-319+9219_-319+9220delinsGC
XM_005273212.4:c.-347+9219_-347+9220delinsGC	XP_005273269.1:n.-347+9219_-347+9220delinsGC
XM_005273213.4:c.-270+9219_-270+9220delinsGC	XP_005273270.1:n.-270+9219_-270+9220delinsGC
XM_011544243.2:c.-396+9219_-396+9220delinsGC	XP_011542545.1:n.-396+9219_-396+9220delinsGC
XM_017001896.1:c.-319+9780_-319+9781delinsGC	XP_016857385.1:n.-319+9780_-319+9781delinsGC
XM_017001897.2:c.-319+9219_-319+9220delinsGC	XP_016857386.1:n.-319+9219_-319+9220delinsGC
XM_017001898.2:c.-319+9780_-319+9781delinsGC	XP_016857387.1:n.-319+9780_-319+9781delinsGC
NM_001377488.1:c.-319+9780_-319+9781delinsGC	NP_001364417.1:n.-319+9780_-319+9781delinsGC
NM_020808.5:c.-319+9219_-319+9220delinsGC MANE Select	NP_065859.3:n.-319+9219_-319+9220delinsGC