Canonical Allele Identifier: CA2769903931

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585141_7585142insCCAAACACACCCAACAC , CM000668.2:g.7585141_7585142insCCAAACACACCCAACAC	GRCh38
NC_000006.11:g.7585374_7585375insCCAAACACACCCAACAC , CM000668.1:g.7585374_7585375insCCAAACACACCCAACAC	GRCh37
NC_000006.10:g.7530373_7530374insCCAAACACACCCAACAC	NCBI36
NG_008803.1:g.48505_48506insCCAAACACACCCAACAC , LRG_423:g.48505_48506insCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6550_6551insCCAAACACACCCAACAC	ENSP00000518230.1:p.Asn2184ThrfsTer17
ENST00000379802.8:c.7879_7880insCCAAACACACCCAACAC MANE Select	ENSP00000369129.3:p.Asn2627ThrfsTer17
ENST00000379802.7:c.7879_7880insCCAAACACACCCAACAC	ENSP00000369129.3:p.Asn2627ThrfsTer17
ENST00000418664.2:c.6082_6083insCCAAACACACCCAACAC	ENSP00000396591.2:p.Asn2028ThrfsTer17
NM_001008844.1:c.6082_6083insCCAAACACACCCAACAC	NP_001008844.1:p.Asn2028ThrfsTer17
NM_004415.2:c.7879_7880insCCAAACACACCCAACAC , LRG_423t1:c.7879_7880insCCAAACACACCCAACAC	NP_004406.2:p.Asn2627ThrfsTer17
XM_011514323.1:c.6550_6551insCCAAACACACCCAACAC	XP_011512625.1:p.Asn2184ThrfsTer17
NM_001008844.2:c.6082_6083insCCAAACACACCCAACAC	NP_001008844.1:p.Asn2028ThrfsTer17
NM_001319034.1:c.6550_6551insCCAAACACACCCAACAC	NP_001305963.1:p.Asn2184ThrfsTer17
NM_004415.3:c.7879_7880insCCAAACACACCCAACAC	NP_004406.2:p.Asn2627ThrfsTer17
NM_004415.4:c.7879_7880insCCAAACACACCCAACAC MANE Select	NP_004406.2:p.Asn2627ThrfsTer17
NM_001008844.3:c.6082_6083insCCAAACACACCCAACAC	NP_001008844.1:p.Asn2028ThrfsTer17
NM_001319034.2:c.6550_6551insCCAAACACACCCAACAC	NP_001305963.1:p.Asn2184ThrfsTer17