Canonical Allele Identifier: CA10618223

Gene: PALLD CBR4

Linked Data

• ClinVar Variation Id: 348048
• ClinVar RCV Id: RCV000324866 ; RCV001653674
• dbSNP Id: rs796761323
• gnomAD v2: 4-169847646-TA-T
• gnomAD v3: 4-168926495-TA-T
• gnomAD v4: 4-168926495-TA-T
• COSMIC: COSN20100760 ; COSN20100761 ; COSN20100762 ; COSN20100763 ; COSN20100764 ; COSN20100765
• MyVariant Identifiers: chr4:g.169847656del (hg19) ; chr4:g.169847648del (hg19) ; chr4:g.169847647del (hg19) ; chr4:g.168926505del (hg38) ; chr4:g.168926497del (hg38) ; chr4:g.168926496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.168926505del , CM000666.2:g.168926505del	GRCh38
NC_000004.11:g.169847656del , CM000666.1:g.169847656del	GRCh37
NC_000004.10:g.170084231del	NCBI36
NG_013376.1:g.434440del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704822.1:c.*120del (PALLD)	ENSP00000516055.1:n.*120del
ENST00000505667.6:c.*325del (PALLD) MANE Select	ENSP00000425556.1:n.*325del
ENST00000507735.6:c.*120del (PALLD)	ENSP00000424016.1:n.*120del
ENST00000261509.10:c.*325del (PALLD)	ENSP00000261509.6:n.*325del
ENST00000507699.1:n.1917del (PALLD)
ENST00000507735.5:c.*120del (PALLD)	ENSP00000424016.1:n.*120del
ENST00000509108.1:n.170-31731del (CBR4)
ENST00000510042.5:c.*259-31731del (CBR4)	ENSP00000424717.1:n.*259-31731del
NM_001166108.1:c.*325del (PALLD)	NP_001159580.1:n.*325del
NM_001166109.1:c.*120del (PALLD)	NP_001159581.1:n.*120del
NM_001166110.1:c.*120del (PALLD)	NP_001159582.1:n.*120del
NM_016081.3:c.*325del (PALLD)	NP_057165.3:n.*325del
XM_005262861.3:c.*120del (PALLD)	XP_005262918.1:n.*120del
XM_005262866.2:c.*120del (PALLD)	XP_005262923.1:n.*120del
XM_005263315.1:c.536-31731del (CBR4)	XP_005263372.1:n.536-31731del
XM_011531768.1:c.*120del (PALLD)	XP_011530070.1:n.*120del
XM_011531769.1:c.*120del (PALLD)	XP_011530071.1:n.*120del
XM_011531770.1:c.*325del (PALLD)	XP_011530072.1:n.*325del
XM_011531771.1:c.*120del (PALLD)	XP_011530073.1:n.*120del
XM_011531772.1:c.*120del (PALLD)	XP_011530074.1:n.*120del
XM_011531773.1:c.*120del (PALLD)	XP_011530075.1:n.*120del
XM_011531774.1:c.*120del (PALLD)	XP_011530076.1:n.*120del
XM_011531775.1:c.*120del (PALLD)	XP_011530077.1:n.*120del
XM_011531776.1:c.*120del (PALLD)	XP_011530078.1:n.*120del
XR_938789.1:n.901+2041del (CBR4)
XM_005262861.4:c.*120del (PALLD)	XP_005262918.1:n.*120del
XM_005263315.3:c.536-31731del (CBR4)	XP_005263372.1:n.536-31731del
XM_011531768.2:c.*120del (PALLD)	XP_011530070.1:n.*120del
XM_011531769.2:c.*120del (PALLD)	XP_011530071.1:n.*120del
XM_011531770.2:c.*325del (PALLD)	XP_011530072.1:n.*325del
XM_011531771.2:c.*120del (PALLD)	XP_011530073.1:n.*120del
XM_011531772.2:c.*120del (PALLD)	XP_011530074.1:n.*120del
XM_017007910.1:c.*325del (PALLD)	XP_016863399.1:n.*325del
XM_017008782.1:c.566-31731del (CBR4)	XP_016864271.1:n.566-31731del
XM_024453939.1:c.*120del (PALLD)	XP_024309707.1:n.*120del
XM_024453940.1:c.*120del (PALLD)	XP_024309708.1:n.*120del
XR_001741341.1:n.901+2041del (CBR4)
NM_001166108.2:c.*325del (PALLD) MANE Select	NP_001159580.1:n.*325del
NM_001367567.1:c.*325del (PALLD)	NP_001354496.1:n.*325del
NM_001367568.1:c.*120del (PALLD)	NP_001354497.1:n.*120del
NM_001367569.1:c.*120del (PALLD)	NP_001354498.1:n.*120del
NM_001367570.1:c.*325del (PALLD)	NP_001354499.1:n.*325del
NM_001166109.2:c.*120del (PALLD)	NP_001159581.1:n.*120del
NM_001166110.2:c.*120del (PALLD)	NP_001159582.1:n.*120del
NM_016081.4:c.*325del (PALLD)	NP_057165.3:n.*325del