Canonical Allele Identifier: CA1608614841

Gene: DSP

Linked Data

• ClinVar Variation Id: 1005365
• ClinVar RCV Id: RCV001302223 ; RCV003365310
• dbSNP Id: rs1759361326

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579799_7579800delinsAG , CM000668.2:g.7579799_7579800delinsAG	GRCh38
NC_000006.11:g.7580032_7580033delinsAG , CM000668.1:g.7580032_7580033delinsAG	GRCh37
NC_000006.10:g.7525031_7525032delinsAG	NCBI36
NG_008803.1:g.43163_43164delinsAG , LRG_423:g.43163_43164delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3609_3610delinsAG	ENSP00000518230.1:p.Met1203_Ser1204delinsIleGly
ENST00000379802.8:c.3609_3610delinsAG MANE Select	ENSP00000369129.3:p.Met1203_Ser1204delinsIleGly
ENST00000379802.7:c.3609_3610delinsAG	ENSP00000369129.3:p.Met1203_Ser1204delinsIleGly
ENST00000418664.2:c.3582+27_3582+28delinsAG	ENSP00000396591.2:n.3582+27_3582+28delinsAG
NM_001008844.1:c.3582+27_3582+28delinsAG	NP_001008844.1:n.3582+27_3582+28delinsAG
NM_004415.2:c.3609_3610delinsAG , LRG_423t1:c.3609_3610delinsAG	NP_004406.2:p.Met1203_Ser1204delinsIleGly
XM_011514323.1:c.3609_3610delinsAG	XP_011512625.1:p.Met1203_Ser1204delinsIleGly
NM_001008844.2:c.3582+27_3582+28delinsAG	NP_001008844.1:n.3582+27_3582+28delinsAG
NM_001319034.1:c.3609_3610delinsAG	NP_001305963.1:p.Met1203_Ser1204delinsIleGly
NM_004415.3:c.3609_3610delinsAG	NP_004406.2:p.Met1203_Ser1204delinsIleGly
NM_004415.4:c.3609_3610delinsAG MANE Select	NP_004406.2:p.Met1203_Ser1204delinsIleGly
NM_001008844.3:c.3582+27_3582+28delinsAG	NP_001008844.1:n.3582+27_3582+28delinsAG
NM_001319034.2:c.3609_3610delinsAG	NP_001305963.1:p.Met1203_Ser1204delinsIleGly