Canonical Allele Identifier: CA2616387329

Gene: CBL

Linked Data

• gnomAD v4: 11-119277940-T-TTCACTAATCTAGTCAATGGGTTCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277941_119277942insCACTAATCTAGTCAATGGGTTCCAAT , CM000673.2:g.119277941_119277942insCACTAATCTAGTCAATGGGTTCCAAT	GRCh38
NC_000011.9:g.119148651_119148652insCACTAATCTAGTCAATGGGTTCCAAT , CM000673.1:g.119148651_119148652insCACTAATCTAGTCAATGGGTTCCAAT	GRCh37
NC_000011.8:g.118653861_118653862insCACTAATCTAGTCAATGGGTTCCAAT	NCBI36
NG_016808.1:g.76662_76663insCACTAATCTAGTCAATGGGTTCCAAT , LRG_608:g.76662_76663insCACTAATCTAGTCAATGGGTTCCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*547+97_*547+98insCACTAATCTAGTCAATGGGTTCCAAT	ENSP00000515005.1:n.*547+97_*547+98insCACTAATCTAGTCAATGGGTTCC...
ENST00000264033.6:c.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT MANE Select	ENSP00000264033.3:n.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCC...
ENST00000637974.1:c.1089+97_1089+98insCACTAATCTAGTCAATGGGTTCCAAT	ENSP00000490763.1:n.1089+97_1089+98insCACTAATCTAGTCAATGGGTTCC...
ENST00000264033.5:c.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT	ENSP00000264033.3:n.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCC...
ENST00000634586.1:c.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT	ENSP00000489218.1:n.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCC...
ENST00000634840.1:c.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT	ENSP00000489324.1:n.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCC...
NM_005188.3:c.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT , LRG_608t1:c.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT	NP_005179.2:n.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT
XM_011543057.1:c.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT	XP_011541359.1:n.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT...
NM_005188.4:c.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT MANE Select	NP_005179.2:n.1095+97_1095+98insCACTAATCTAGTCAATGGGTTCCAAT