Canonical Allele Identifier: CA2398209121
Community Standard Title: NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690Ter)
Gene: SPECC1L HGNC NCBI
SPECC1L-ADORA2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24324348_24324352delinsTTGAAC , CM000684.2:g.24324348_24324352delinsTTGAAC GRCh38
NC_000022.10:g.24720316_24720320delinsTTGAAC , CM000684.1:g.24720316_24720320delinsTTGAAC GRCh37
NC_000022.9:g.23050316_23050320delinsTTGAAC NCBI36
NG_031915.2:g.58527_58531delinsTTGAAC

Transcript Alleles

HGVS Amino-acid Change
NM_015330.6:c.2067_2071delinsTTGAAC (SPECC1L) MANE Select NP_056145.5:p.Ile690Ter
ENST00000314328.14:c.2067_2071delinsTTGAAC (SPECC1L) MANE Select ENSP00000325785.8:p.Ile690Ter
NM_001145468.3:c.2067_2071delinsTTGAAC (SPECC1L) NP_001138940.3:p.Ile690Ter
NM_001145468.4:c.2067_2071delinsTTGAAC (SPECC1L) NP_001138940.4:p.Ile690Ter
NM_001254732.2:c.2067_2071delinsTTGAAC (SPECC1L) NP_001241661.2:p.Ile690Ter
NM_001254732.3:c.2067_2071delinsTTGAAC (SPECC1L) NP_001241661.3:p.Ile690Ter
NM_015330.4:c.2067_2071delinsTTGAAC (SPECC1L) NP_056145.4:p.Ile690Ter
NM_015330.5:c.2067_2071delinsTTGAAC (SPECC1L) NP_056145.4:p.Ile690Ter
NR_103546.1:n.2375_2379delinsTTGAAC (SPECC1L-ADORA2A)
ENST00000314328.13:c.2067_2071delinsTTGAAC (SPECC1L) ENSP00000325785.8:p.Ile690Ter
ENST00000358654.2:c.2067_2071delinsTTGAAC (SPECC1L-ADORA2A) ENSP00000351480.2:p.Ile690Ter
ENST00000421374.5:c.2067_2071delinsTTGAAC (SPECC1L) ENSP00000405671.1:p.Ile690Ter
ENST00000437398.5:c.2067_2071delinsTTGAAC (SPECC1L) ENSP00000393363.1:p.Ile690Ter
ENST00000541492.1:c.2067_2071delinsTTGAAC (SPECC1L) ENSP00000439633.1:p.Ile690Ter
ENST00000651059.1:c.2124_2128delinsTTGAAC (SPECC1L) ENSP00000499052.1:p.Ile709Ter