Canonical Allele Identifier: CA3069471

Gene: BBS12

Linked Data

• ClinVar Variation Id: 434492
• ClinVar RCV Id: RCV000503271 ; RCV000801690 ; RCV000787787 ; RCV001073940 ; RCV003419857
• dbSNP Id: rs752762669
• ExAC: 4:123664576 CACAGATGCA / C
• gnomAD v2: 4-123664576-CACAGATGCA-C
• gnomAD v3: 4-122743421-CACAGATGCA-C
• gnomAD v4: 4-122743421-CACAGATGCA-C
• MyVariant Identifiers: chr4:g.123664578_123664586del (hg19) ; chr4:g.123664577_123664585del (hg19) ; chr4:g.122743423_122743431del (hg38) ; chr4:g.122743422_122743430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743423_122743431del , CM000666.2:g.122743423_122743431del	GRCh38
NC_000004.11:g.123664578_123664586del , CM000666.1:g.123664578_123664586del	GRCh37
NC_000004.10:g.123884028_123884036del	NCBI36
NG_021203.1:g.15722_15730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1531_1539del MANE Select	ENSP00000319062.3:p.Gln511_Gln513del
ENST00000314218.7:c.1531_1539del	ENSP00000319062.3:p.Gln511_Gln513del
ENST00000542236.5:c.1531_1539del	ENSP00000438273.1:p.Gln511_Gln513del
NM_001178007.1:c.1531_1539del	NP_001171478.1:p.Gln511_Gln513del
NM_152618.2:c.1531_1539del	NP_689831.2:p.Gln511_Gln513del
XM_011531680.1:c.1531_1539del	XP_011529982.1:p.Gln511_Gln513del
XM_011531680.2:c.1531_1539del	XP_011529982.1:p.Gln511_Gln513del
XM_017007831.1:c.1531_1539del	XP_016863320.1:p.Gln511_Gln513del
NM_152618.3:c.1531_1539del MANE Select	NP_689831.2:p.Gln511_Gln513del
NM_001178007.2:c.1531_1539del	NP_001171478.1:p.Gln511_Gln513del