Canonical Allele Identifier: CA3069355

Gene: BBS12

Linked Data

• ClinVar Variation Id: 970839
• ClinVar RCV Id: RCV001246490 ; RCV001355863 ; RCV001829992 ; RCV003918802
• dbSNP Id: rs779801356
• ExAC: 4:123664023 ACTT / A
• gnomAD v2: 4-123664023-ACTT-A
• gnomAD v3: 4-122742868-ACTT-A
• gnomAD v4: 4-122742868-ACTT-A
• MyVariant Identifiers: chr4:g.123664024_123664026del (hg19) ; chr4:g.122742869_122742871del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742875_122742877del , CM000666.2:g.122742875_122742877del	GRCh38
NC_000004.11:g.123664030_123664032del , CM000666.1:g.123664030_123664032del	GRCh37
NC_000004.10:g.123883480_123883482del	NCBI36
NG_021203.1:g.15174_15176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.983_985del MANE Select	ENSP00000319062.3:p.Ser328del
ENST00000314218.7:c.983_985del	ENSP00000319062.3:p.Ser328del
ENST00000542236.5:c.983_985del	ENSP00000438273.1:p.Ser328del
NM_001178007.1:c.983_985del	NP_001171478.1:p.Ser328del
NM_152618.2:c.983_985del	NP_689831.2:p.Ser328del
XM_011531680.1:c.983_985del	XP_011529982.1:p.Ser328del
XM_011531680.2:c.983_985del	XP_011529982.1:p.Ser328del
XM_017007831.1:c.983_985del	XP_016863320.1:p.Ser328del
NM_152618.3:c.983_985del MANE Select	NP_689831.2:p.Ser328del
NM_001178007.2:c.983_985del	NP_001171478.1:p.Ser328del