Canonical Allele Identifier: CA2740094232
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 2941289
ClinVar RCV Id: RCV003792551

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565523_7565526dup , CM000668.2:g.7565523_7565526dup GRCh38
NC_000006.11:g.7565756_7565759dup , CM000668.1:g.7565756_7565759dup GRCh37
NC_000006.10:g.7510755_7510758dup NCBI36
NG_008803.1:g.28887_28890dup , LRG_423:g.28887_28890dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.939+3_939+6dup ENSP00000518230.1:n.939+3_939+6dup
ENST00000682228.1:n.263+3_263+6dup
ENST00000379802.8:c.939+3_939+6dup MANE Select ENSP00000369129.3:n.939+3_939+6dup
ENST00000379802.7:c.939+3_939+6dup ENSP00000369129.3:n.939+3_939+6dup
ENST00000418664.2:c.939+3_939+6dup ENSP00000396591.2:n.939+3_939+6dup
ENST00000506617.1:n.460_463dup
NM_001008844.1:c.939+3_939+6dup NP_001008844.1:n.939+3_939+6dup
NM_004415.2:c.939+3_939+6dup , LRG_423t1:c.939+3_939+6dup NP_004406.2:n.939+3_939+6dup
XM_011514323.1:c.939+3_939+6dup XP_011512625.1:n.939+3_939+6dup
NM_001008844.2:c.939+3_939+6dup NP_001008844.1:n.939+3_939+6dup
NM_001319034.1:c.939+3_939+6dup NP_001305963.1:n.939+3_939+6dup
NM_004415.3:c.939+3_939+6dup NP_004406.2:n.939+3_939+6dup
NM_004415.4:c.939+3_939+6dup MANE Select NP_004406.2:n.939+3_939+6dup
NM_001008844.3:c.939+3_939+6dup NP_001008844.1:n.939+3_939+6dup
NM_001319034.2:c.939+3_939+6dup NP_001305963.1:n.939+3_939+6dup