Canonical Allele Identifier: CA609929400

Gene: RB1 LPAR6

Linked Data

• dbSNP Id: rs1370123231
• gnomAD v2: 13-48986191-C-CTTTTTTT
• gnomAD v3: 13-48412055-C-CTTTTTTT
• gnomAD v4: 13-48412055-C-CTTTTTTT
• MyVariant Identifiers: chr13:g.48986191_48986192insTTTTTTT (hg19) ; chr13:g.48412055_48412056insTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48412057_48412058insTTTTTTT , CM000675.2:g.48412057_48412058insTTTTTTT	GRCh38
NC_000013.10:g.48986193_48986194insTTTTTTT , CM000675.1:g.48986193_48986194insTTTTTTT	GRCh37
NC_000013.9:g.47884194_47884195insTTTTTTT	NCBI36
NG_009009.1:g.113311_113312insTTTTTTT , LRG_517:g.113311_113312insTTTTTTT
NG_012874.1:g.37649_37650insAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+30614_1695+30615insTTTTTTT (RB1) MANE Select	ENSP00000267163.4:n.1695+30614_1695+30615insTTTTTTT
ENST00000620633.5:c.368_369insAAAAAAA (LPAR6) MANE Select	ENSP00000482660.1:p.Ser124LysfsTer?
ENST00000643064.1:c.194+30614_194+30615insTTTTTTT (RB1)
ENST00000650461.1:c.1695+30614_1695+30615insTTTTTTT (RB1)	ENSP00000497193.1:n.1695+30614_1695+30615insTTTTTTT
ENST00000267163.4:c.1695+30614_1695+30615insTTTTTTT (RB1)	ENSP00000267163.4:n.1695+30614_1695+30615insTTTTTTT
ENST00000345941.2:c.368_369insAAAAAAA (LPAR6)	ENSP00000344353.2:p.Ser124LysfsTer?
ENST00000378434.8:c.368_369insAAAAAAA (LPAR6)	ENSP00000367691.3:p.Ser124LysfsTer?
ENST00000462781.5:n.114+3644_114+3645insAAAAAAA (LPAR6)
ENST00000465365.6:n.1069-3289_1069-3288insAAAAAAA (LPAR6)
ENST00000470937.1:n.117+3644_117+3645insAAAAAAA (LPAR6)
ENST00000482024.1:n.219_220insAAAAAAA (LPAR6)
ENST00000620633.4:c.368_369insAAAAAAA (LPAR6)	ENSP00000482660.1:p.Ser124LysfsTer?
NM_000321.2:c.1695+30614_1695+30615insTTTTTTT , LRG_517t1:c.1695+30614_1695+30615insTTTTTTT (RB1)	NP_000312.2:n.1695+30614_1695+30615insTTTTTTT
NM_001162497.1:c.368_369insAAAAAAA (LPAR6)	NP_001155969.1:p.Ser124LysfsTer?
NM_001162498.1:c.368_369insAAAAAAA (LPAR6)	NP_001155970.1:p.Ser124LysfsTer?
NM_005767.5:c.368_369insAAAAAAA (LPAR6)	NP_005758.2:p.Ser124LysfsTer?
XM_011535171.1:c.1434+30614_1434+30615insTTTTTTT (RB1)	XP_011533473.1:n.1434+30614_1434+30615insTTTTTTT
XM_011535171.2:c.1434+30614_1434+30615insTTTTTTT (RB1)	XP_011533473.1:n.1434+30614_1434+30615insTTTTTTT
XM_024449302.1:c.368_369insAAAAAAA (LPAR6)	XP_024305070.1:p.Ser124LysfsTer?
XM_024449303.1:c.192+3644_192+3645insAAAAAAA (LPAR6)	XP_024305071.1:n.192+3644_192+3645insAAAAAAA
XM_024449304.1:c.192+3644_192+3645insAAAAAAA (LPAR6)	XP_024305072.1:n.192+3644_192+3645insAAAAAAA
NM_001162497.2:c.368_369insAAAAAAA (LPAR6)	NP_001155969.1:p.Ser124LysfsTer?
NM_001162498.2:c.368_369insAAAAAAA (LPAR6)	NP_001155970.1:p.Ser124LysfsTer?
NM_001377316.1:c.368_369insAAAAAAA (LPAR6)	NP_001364245.1:p.Ser124LysfsTer?
NM_001377317.1:c.368_369insAAAAAAA (LPAR6)	NP_001364246.1:p.Ser124LysfsTer?
NM_005767.6:c.368_369insAAAAAAA (LPAR6)	NP_005758.2:p.Ser124LysfsTer?
NM_000321.3:c.1695+30614_1695+30615insTTTTTTT (RB1) MANE Select	NP_000312.2:n.1695+30614_1695+30615insTTTTTTT
NM_001162497.3:c.368_369insAAAAAAA (LPAR6)	NP_001155969.1:p.Ser124LysfsTer?
NM_001162498.3:c.368_369insAAAAAAA (LPAR6) MANE Select	NP_001155970.1:p.Ser124LysfsTer?
NM_001377316.2:c.368_369insAAAAAAA (LPAR6)	NP_001364245.1:p.Ser124LysfsTer?
NM_001377317.2:c.368_369insAAAAAAA (LPAR6)	NP_001364246.1:p.Ser124LysfsTer?
NM_005767.7:c.368_369insAAAAAAA (LPAR6)	NP_005758.2:p.Ser124LysfsTer?