Canonical Allele Identifier: CA2622982799

Gene: RB1 LPAR6

Linked Data

• gnomAD v4: 13-48413250-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48413251del , CM000675.2:g.48413251del	GRCh38
NC_000013.10:g.48987387del , CM000675.1:g.48987387del	GRCh37
NC_000013.9:g.47885388del	NCBI36
NG_009009.1:g.114505del , LRG_517:g.114505del
NG_012874.1:g.36454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+31808del (RB1) MANE Select	ENSP00000267163.4:n.1695+31808del
ENST00000643064.1:c.194+31808del (RB1)
ENST00000650461.1:c.1695+31808del (RB1)	ENSP00000497193.1:n.1695+31808del
ENST00000267163.4:c.1695+31808del (RB1)	ENSP00000267163.4:n.1695+31808del
ENST00000345941.2:c.-688-140del (LPAR6)	ENSP00000344353.2:n.-688-140del
ENST00000378434.8:c.-688-140del (LPAR6)	ENSP00000367691.3:n.-688-140del
ENST00000462781.5:n.114+2449del (LPAR6)
ENST00000465365.6:n.1068+2449del (LPAR6)
ENST00000470937.1:n.117+2449del (LPAR6)
ENST00000620633.4:c.-688-140del (LPAR6)	ENSP00000482660.1:n.-688-140del
NM_000321.2:c.1695+31808del , LRG_517t1:c.1695+31808del (RB1)	NP_000312.2:n.1695+31808del
NM_001162497.1:c.-688-140del (LPAR6)	NP_001155969.1:n.-688-140del
NM_001162498.1:c.-828del (LPAR6)	NP_001155970.1:n.-828del
NM_005767.5:c.-688-140del (LPAR6)	NP_005758.2:n.-688-140del
XM_011535171.1:c.1434+31808del (RB1)	XP_011533473.1:n.1434+31808del
XM_011535171.2:c.1434+31808del (RB1)	XP_011533473.1:n.1434+31808del
XM_024449302.1:c.-688-140del (LPAR6)	XP_024305070.1:n.-688-140del
XM_024449303.1:c.192+2449del (LPAR6)	XP_024305071.1:n.192+2449del
XM_024449304.1:c.192+2449del (LPAR6)	XP_024305072.1:n.192+2449del
NM_001162497.2:c.-688-140del (LPAR6)	NP_001155969.1:n.-688-140del
NM_001377316.1:c.-688-140del (LPAR6)	NP_001364245.1:n.-688-140del
NM_001377317.1:c.-688-140del (LPAR6)	NP_001364246.1:n.-688-140del
NM_005767.6:c.-688-140del (LPAR6)	NP_005758.2:n.-688-140del
NM_000321.3:c.1695+31808del (RB1) MANE Select	NP_000312.2:n.1695+31808del
NM_001162497.3:c.-688-140del (LPAR6)	NP_001155969.1:n.-688-140del
NM_001377316.2:c.-688-140del (LPAR6)	NP_001364245.1:n.-688-140del
NM_001377317.2:c.-688-140del (LPAR6)	NP_001364246.1:n.-688-140del
NM_005767.7:c.-688-140del (LPAR6)	NP_005758.2:n.-688-140del