Canonical Allele Identifier: CA3581307

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 1300761
• ClinVar RCV Id: RCV001732984
• dbSNP Id: rs35966430
• ExAC: 5:176831177 T / TC
• gnomAD v2: 5-176831177-T-TC
• gnomAD v3: 5-177404176-T-TC
• gnomAD v4: 5-177404176-T-TC
• MyVariant Identifiers: chr5:g.176831179_176831180insC (hg19) ; chr5:g.176831178_176831179insC (hg19) ; chr5:g.176831177_176831178insC (hg19) ; chr5:g.177404178_177404179insC (hg38) ; chr5:g.177404177_177404178insC (hg38) ; chr5:g.177404176_177404177insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404185dup , CM000667.2:g.177404185dup	GRCh38
NC_000005.9:g.176831186dup , CM000667.1:g.176831186dup	GRCh37
NC_000005.8:g.176763792dup	NCBI36
NG_007568.1:g.10400dup , LRG_145:g.10400dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*684+19dup (F12)	ENSP00000512476.1:n.*684+19dup
ENST00000696193.1:c.*1388+19dup (F12)	ENSP00000512477.1:n.*1388+19dup
ENST00000696194.1:c.*608+19dup (F12)	ENSP00000512478.1:n.*608+19dup
ENST00000696195.1:n.3821+19dup (F12)
ENST00000696200.1:n.1121+19dup (F12)
ENST00000696201.1:c.1018+19dup (F12)	ENSP00000512482.1:n.1018+19dup
ENST00000253496.4:c.1018+19dup (F12) MANE Select	ENSP00000253496.3:n.1018+19dup
ENST00000253496.3:c.1018+19dup (F12)	ENSP00000253496.3:n.1018+19dup
ENST00000502598.5:c.-45+659dup (GRK6)	ENSP00000422873.1:n.-45+659dup
ENST00000502854.5:n.277+19dup (F12)
ENST00000503736.1:n.390+19dup (F12)
ENST00000510358.5:n.296dup (F12)
NM_000505.3:c.1018+19dup , LRG_145t1:c.1018+19dup (F12)	NP_000496.2:n.1018+19dup
XM_011534461.1:c.1018+19dup (F12)	XP_011532763.1:n.1018+19dup
XM_011534462.1:c.682+19dup (F12)	XP_011532764.1:n.682+19dup
XM_011534462.2:c.682+19dup (F12)	XP_011532764.1:n.682+19dup
XM_017009773.2:c.1416+7111dup (SLC34A1)	XP_016865262.1:n.1416+7111dup
NM_000505.4:c.1018+19dup (F12) MANE Select	NP_000496.2:n.1018+19dup