Canonical Allele Identifier: CA2677222124

Gene: DSP

Linked Data

• ClinVar Variation Id: 3071356
• ClinVar RCV Id: RCV004014858
• gnomAD v4: 6-7585773-T-TCGCTCCGGGTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585777_7585788dup , CM000668.2:g.7585777_7585788dup	GRCh38
NC_000006.11:g.7586010_7586021dup , CM000668.1:g.7586010_7586021dup	GRCh37
NC_000006.10:g.7531009_7531020dup	NCBI36
NG_008803.1:g.49141_49152dup , LRG_423:g.49141_49152dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7186_7197dup	ENSP00000518230.1:p.Arg2399_Ser2400insSerGlySerArg
ENST00000379802.8:c.8515_8526dup MANE Select	ENSP00000369129.3:p.Arg2842_Ser2843insSerGlySerArg
ENST00000379802.7:c.8515_8526dup	ENSP00000369129.3:p.Arg2842_Ser2843insSerGlySerArg
ENST00000418664.2:c.6718_6729dup	ENSP00000396591.2:p.Arg2243_Ser2244insSerGlySerArg
NM_001008844.1:c.6718_6729dup	NP_001008844.1:p.Arg2243_Ser2244insSerGlySerArg
NM_004415.2:c.8515_8526dup , LRG_423t1:c.8515_8526dup	NP_004406.2:p.Arg2842_Ser2843insSerGlySerArg
XM_011514323.1:c.7186_7197dup	XP_011512625.1:p.Arg2399_Ser2400insSerGlySerArg
NM_001008844.2:c.6718_6729dup	NP_001008844.1:p.Arg2243_Ser2244insSerGlySerArg
NM_001319034.1:c.7186_7197dup	NP_001305963.1:p.Arg2399_Ser2400insSerGlySerArg
NM_004415.3:c.8515_8526dup	NP_004406.2:p.Arg2842_Ser2843insSerGlySerArg
NM_004415.4:c.8515_8526dup MANE Select	NP_004406.2:p.Arg2842_Ser2843insSerGlySerArg
NM_001008844.3:c.6718_6729dup	NP_001008844.1:p.Arg2243_Ser2244insSerGlySerArg
NM_001319034.2:c.7186_7197dup	NP_001305963.1:p.Arg2399_Ser2400insSerGlySerArg