Canonical Allele Identifier: CA133956204

Gene: DSP

Linked Data

• ClinVar Variation Id: 1187392
• ClinVar RCV Id: RCV001546822
• dbSNP Id: rs542204143
• gnomAD v2: 6-7569086-CTG-C
• gnomAD v3: 6-7568853-CTG-C
• gnomAD v4: 6-7568853-CTG-C
• MyVariant Identifiers: chr6:g.7569087_7569088del (hg19) ; chr6:g.7568854_7568855del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7568856_7568857del , CM000668.2:g.7568856_7568857del	GRCh38
NC_000006.11:g.7569089_7569090del , CM000668.1:g.7569089_7569090del	GRCh37
NC_000006.10:g.7514088_7514089del	NCBI36
NG_008803.1:g.32220_32221del , LRG_423:g.32220_32221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.1419+267_1419+268del	ENSP00000518230.1:n.1419+267_1419+268del
ENST00000379802.8:c.1419+267_1419+268del MANE Select	ENSP00000369129.3:n.1419+267_1419+268del
ENST00000379802.7:c.1419+267_1419+268del	ENSP00000369129.3:n.1419+267_1419+268del
ENST00000418664.2:c.1419+267_1419+268del	ENSP00000396591.2:n.1419+267_1419+268del
NM_001008844.1:c.1419+267_1419+268del	NP_001008844.1:n.1419+267_1419+268del
NM_004415.2:c.1419+267_1419+268del , LRG_423t1:c.1419+267_1419+268del	NP_004406.2:n.1419+267_1419+268del
XM_011514323.1:c.1419+267_1419+268del	XP_011512625.1:n.1419+267_1419+268del
NM_001008844.2:c.1419+267_1419+268del	NP_001008844.1:n.1419+267_1419+268del
NM_001319034.1:c.1419+267_1419+268del	NP_001305963.1:n.1419+267_1419+268del
NM_004415.3:c.1419+267_1419+268del	NP_004406.2:n.1419+267_1419+268del
NM_004415.4:c.1419+267_1419+268del MANE Select	NP_004406.2:n.1419+267_1419+268del
NM_001008844.3:c.1419+267_1419+268del	NP_001008844.1:n.1419+267_1419+268del
NM_001319034.2:c.1419+267_1419+268del	NP_001305963.1:n.1419+267_1419+268del