Canonical Allele Identifier: CA2671993388

Gene: BBS12

Linked Data

• gnomAD v4: 4-122742971-A-AGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742972_122742974dup , CM000666.2:g.122742972_122742974dup	GRCh38
NC_000004.11:g.123664127_123664129dup , CM000666.1:g.123664127_123664129dup	GRCh37
NC_000004.10:g.123883577_123883579dup	NCBI36
NG_021203.1:g.15271_15273dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000314218.8:c.1080_1082dup MANE Select	ENSP00000319062.3:p.Gly361_Asp362insGly
ENST00000314218.7:c.1080_1082dup	ENSP00000319062.3:p.Gly361_Asp362insGly
ENST00000542236.5:c.1080_1082dup	ENSP00000438273.1:p.Gly361_Asp362insGly
NM_001178007.1:c.1080_1082dup	NP_001171478.1:p.Gly361_Asp362insGly
NM_152618.2:c.1080_1082dup	NP_689831.2:p.Gly361_Asp362insGly
XM_011531680.1:c.1080_1082dup	XP_011529982.1:p.Gly361_Asp362insGly
XM_011531680.2:c.1080_1082dup	XP_011529982.1:p.Gly361_Asp362insGly
XM_017007831.1:c.1080_1082dup	XP_016863320.1:p.Gly361_Asp362insGly
NM_152618.3:c.1080_1082dup MANE Select	NP_689831.2:p.Gly361_Asp362insGly
NM_001178007.2:c.1080_1082dup	NP_001171478.1:p.Gly361_Asp362insGly