Canonical Allele Identifier: CA3581301

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 441533
• ClinVar RCV Id: RCV000510138
• dbSNP Id: rs1554097246
• ExAC: 5:176831172 CTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT / C
• gnomAD v2: 5-176831172-CTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT-C
• gnomAD v4: 5-177404171-CTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT-C
• MyVariant Identifiers: chr5:g.176831173_176831244del (hg19) ; chr5:g.177404172_177404243del (hg38)
• PubMed: PMID:27130860

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404174_177404245del , CM000667.2:g.177404174_177404245del	GRCh38
NC_000005.9:g.176831175_176831246del , CM000667.1:g.176831175_176831246del	GRCh37
NC_000005.8:g.176763781_176763852del	NCBI36
NG_007568.1:g.10334_10405del , LRG_145:g.10334_10405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*637_*684+24del (F12)
ENST00000696193.1:c.*1341_*1388+24del (F12)
ENST00000696194.1:c.*561_*608+24del (F12)
ENST00000696195.1:n.3774_3821+24del (F12)
ENST00000696200.1:n.1074_1121+24del (F12)
ENST00000696201.1:c.971_1018+24del (F12)
ENST00000253496.4:c.971_1018+24del (F12)
ENST00000253496.3:c.971_1018+24del (F12)
ENST00000502598.5:c.-45+648_-45+719del (GRK6)	ENSP00000422873.1:n.-45+648_-45+719del
ENST00000502854.5:n.230_277+24del (F12)
ENST00000503736.1:n.343_390+24del (F12)
ENST00000510358.5:n.230_301del (F12)
NM_000505.3:c.971_1018+24del , LRG_145t1:c.971_1018+24del (F12)
XM_011534461.1:c.971_1018+24del (F12)
XM_011534462.1:c.635_682+24del (F12)
XM_011534462.2:c.635_682+24del (F12)
XM_017009773.2:c.1416+7100_1416+7171del (SLC34A1)	XP_016865262.1:n.1416+7100_1416+7171del
NM_000505.4:c.971_1018+24del (F12)