Canonical Allele Identifier: CA3581349

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 403709
• ClinVar RCV Id: RCV000456124
• dbSNP Id: rs774034606
• ExAC: 5:176831303 C / CGGAGGCGCCGCCTGGGTT
• gnomAD v2: 5-176831303-C-CGGAGGCGCCGCCTGGGTT
• gnomAD v3: 5-177404302-C-CGGAGGCGCCGCCTGGGTT
• gnomAD v4: 5-177404302-C-CGGAGGCGCCGCCTGGGTT
• MyVariant Identifiers: chr5:g.176831304_176831321dup18 (hg19) ; chr5:g.176831303_176831304insGGAGGCGCCGCCTGGGTT (hg19) ; chr5:g.177404303_177404320dup18 (hg38) ; chr5:g.177404302_177404303insGGAGGCGCCGCCTGGGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404305_177404322dup , CM000667.2:g.177404305_177404322dup	GRCh38
NC_000005.9:g.176831306_176831323dup , CM000667.1:g.176831306_176831323dup	GRCh37
NC_000005.8:g.176763912_176763929dup	NCBI36
NG_007568.1:g.10257_10274dup , LRG_145:g.10257_10274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*560_*577dup (F12)	ENSP00000512476.1:n.*560_*577dup
ENST00000696193.1:c.*1264_*1281dup (F12)	ENSP00000512477.1:n.*1264_*1281dup
ENST00000696194.1:c.*484_*501dup (F12)	ENSP00000512478.1:n.*484_*501dup
ENST00000696195.1:n.3697_3714dup (F12)
ENST00000696200.1:n.997_1014dup (F12)
ENST00000696201.1:c.894_911dup (F12)	ENSP00000512482.1:p.Pro304_Thr305insThrGlnAlaAlaProPro
ENST00000253496.4:c.894_911dup (F12) MANE Select	ENSP00000253496.3:p.Pro304_Thr305insThrGlnAlaAlaProPro
ENST00000253496.3:c.894_911dup (F12)	ENSP00000253496.3:p.Pro304_Thr305insThrGlnAlaAlaProPro
ENST00000502598.5:c.-45+779_-45+796dup (GRK6)	ENSP00000422873.1:n.-45+779_-45+796dup
ENST00000502854.5:n.153_170dup (F12)
ENST00000503736.1:n.266_283dup (F12)
ENST00000510358.5:n.153_170dup (F12)
NM_000505.3:c.894_911dup , LRG_145t1:c.894_911dup (F12)	NP_000496.2:p.Pro304_Thr305insThrGlnAlaAlaProPro
XM_011534461.1:c.894_911dup (F12)	XP_011532763.1:p.Pro304_Thr305insThrGlnAlaAlaProPro
XM_011534462.1:c.558_575dup (F12)	XP_011532764.1:p.Pro192_Thr193insThrGlnAlaAlaProPro
XM_011534462.2:c.558_575dup (F12)	XP_011532764.1:p.Pro192_Thr193insThrGlnAlaAlaProPro
XM_017009773.2:c.1416+7231_1416+7248dup (SLC34A1)	XP_016865262.1:n.1416+7231_1416+7248dup
NM_000505.4:c.894_911dup (F12) MANE Select	NP_000496.2:p.Pro304_Thr305insThrGlnAlaAlaProPro