Canonical Allele Identifier: CA2580615265
Gene: SPECC1L HGNC NCBI
SPECC1L-ADORA2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24334432del , CM000684.2:g.24334432del GRCh38
NC_000022.10:g.24730400del , CM000684.1:g.24730400del GRCh37
NC_000022.9:g.23060400del NCBI36
NG_031915.2:g.68611del

Transcript Alleles

HGVS Amino-acid Change
NM_015330.6:c.2419del (SPECC1L) MANE Select NP_056145.5:p.Val807TyrfsTer5
ENST00000314328.14:c.2419del (SPECC1L) MANE Select ENSP00000325785.8:p.Val807TyrfsTer5
NM_001145468.3:c.2419del (SPECC1L) NP_001138940.3:p.Val807TyrfsTer5
NM_001145468.4:c.2419del (SPECC1L) NP_001138940.4:p.Val807TyrfsTer5
NM_001254732.2:c.2419del (SPECC1L) NP_001241661.2:p.Val807TyrfsTer5
NM_001254732.3:c.2419del (SPECC1L) NP_001241661.3:p.Val807TyrfsTer5
NM_015330.4:c.2419del (SPECC1L) NP_056145.4:p.Val807TyrfsTer5
NM_015330.5:c.2419del (SPECC1L) NP_056145.4:p.Val807TyrfsTer5
NR_103546.1:n.2727del (SPECC1L-ADORA2A)
ENST00000314328.13:c.2419del (SPECC1L) ENSP00000325785.8:p.Val807TyrfsTer5
ENST00000358654.2:c.2419del (SPECC1L-ADORA2A) ENSP00000351480.2:p.Val807TyrfsTer5
ENST00000437398.5:c.2419del (SPECC1L) ENSP00000393363.1:p.Val807TyrfsTer5
ENST00000541492.1:c.2419del (SPECC1L) ENSP00000439633.1:p.Val807TyrfsTer5
ENST00000651059.1:c.2476del (SPECC1L) ENSP00000499052.1:p.Val826TyrfsTer5