Canonical Allele Identifier: CA915944141

Gene: DSP

Linked Data

• ClinVar Variation Id: 664556
• ClinVar RCV Id: RCV000822671 ; RCV001256833
• dbSNP Id: rs1581802595

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7568520_7568521insTTA , CM000668.2:g.7568520_7568521insTTA	GRCh38
NC_000006.11:g.7568753_7568754insTTA , CM000668.1:g.7568753_7568754insTTA	GRCh37
NC_000006.10:g.7513752_7513753insTTA	NCBI36
NG_008803.1:g.31884_31885insTTA , LRG_423:g.31884_31885insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.1350_1351insTTA	ENSP00000518230.1:p.Pro450_Arg451insLeu
ENST00000379802.8:c.1350_1351insTTA MANE Select	ENSP00000369129.3:p.Pro450_Arg451insLeu
ENST00000379802.7:c.1350_1351insTTA	ENSP00000369129.3:p.Pro450_Arg451insLeu
ENST00000418664.2:c.1350_1351insTTA	ENSP00000396591.2:p.Pro450_Arg451insLeu
NM_001008844.1:c.1350_1351insTTA	NP_001008844.1:p.Pro450_Arg451insLeu
NM_004415.2:c.1350_1351insTTA , LRG_423t1:c.1350_1351insTTA	NP_004406.2:p.Pro450_Arg451insLeu
XM_011514323.1:c.1350_1351insTTA	XP_011512625.1:p.Pro450_Arg451insLeu
NM_001008844.2:c.1350_1351insTTA	NP_001008844.1:p.Pro450_Arg451insLeu
NM_001319034.1:c.1350_1351insTTA	NP_001305963.1:p.Pro450_Arg451insLeu
NM_004415.3:c.1350_1351insTTA	NP_004406.2:p.Pro450_Arg451insLeu
NM_004415.4:c.1350_1351insTTA MANE Select	NP_004406.2:p.Pro450_Arg451insLeu
NM_001008844.3:c.1350_1351insTTA	NP_001008844.1:p.Pro450_Arg451insLeu
NM_001319034.2:c.1350_1351insTTA	NP_001305963.1:p.Pro450_Arg451insLeu