Canonical Allele Identifier: CA2763361539

Gene: BBS12

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743036_122743037del , CM000666.2:g.122743036_122743037del	GRCh38
NC_000004.11:g.123664191_123664192del , CM000666.1:g.123664191_123664192del	GRCh37
NC_000004.10:g.123883641_123883642del	NCBI36
NG_021203.1:g.15335_15336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1144_1145del MANE Select	ENSP00000319062.3:p.Leu382ArgfsTer2
ENST00000314218.7:c.1144_1145del	ENSP00000319062.3:p.Leu382ArgfsTer2
ENST00000542236.5:c.1144_1145del	ENSP00000438273.1:p.Leu382ArgfsTer2
NM_001178007.1:c.1144_1145del	NP_001171478.1:p.Leu382ArgfsTer2
NM_152618.2:c.1144_1145del	NP_689831.2:p.Leu382ArgfsTer2
XM_011531680.1:c.1144_1145del	XP_011529982.1:p.Leu382ArgfsTer2
XM_011531680.2:c.1144_1145del	XP_011529982.1:p.Leu382ArgfsTer2
XM_017007831.1:c.1144_1145del	XP_016863320.1:p.Leu382ArgfsTer2
NM_152618.3:c.1144_1145del MANE Select	NP_689831.2:p.Leu382ArgfsTer2
NM_001178007.2:c.1144_1145del	NP_001171478.1:p.Leu382ArgfsTer2