Canonical Allele Identifier: CA3581211

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 3043999
• ClinVar RCV Id: RCV004555700
• dbSNP Id: rs530070405
• ExAC: 5:176830622 CG / C
• gnomAD v2: 5-176830622-CG-C
• gnomAD v3: 5-177403621-CG-C
• gnomAD v4: 5-177403621-CG-C
• MyVariant Identifiers: chr5:g.176830623del (hg19) ; chr5:g.177403622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403629del , CM000667.2:g.177403629del	GRCh38
NC_000005.9:g.176830630del , CM000667.1:g.176830630del	GRCh37
NC_000005.8:g.176763236del	NCBI36
NG_007568.1:g.10955del , LRG_145:g.10955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-5del (F12)	ENSP00000512476.1:n.*917-5del
ENST00000696193.1:c.*1638-5del (F12)	ENSP00000512477.1:n.*1638-5del
ENST00000696194.1:c.*841-5del (F12)	ENSP00000512478.1:n.*841-5del
ENST00000696195.1:n.4054-5del (F12)
ENST00000696200.1:n.1590del (F12)
ENST00000696201.1:c.1251-5del (F12)	ENSP00000512482.1:n.1251-5del
ENST00000253496.4:c.1251-5del (F12) MANE Select	ENSP00000253496.3:n.1251-5del
ENST00000253496.3:c.1251-5del (F12)	ENSP00000253496.3:n.1251-5del
ENST00000502598.5:c.-45+103del (GRK6)	ENSP00000422873.1:n.-45+103del
ENST00000502854.5:n.746del (F12)
ENST00000503736.1:n.623-5del (F12)
ENST00000504406.5:n.129del (F12)
ENST00000510358.5:n.851del (F12)
NM_000505.3:c.1251-5del , LRG_145t1:c.1251-5del (F12)	NP_000496.2:n.1251-5del
XM_011534461.1:c.1251-5del (F12)	XP_011532763.1:n.1251-5del
XM_011534462.1:c.915-5del (F12)	XP_011532764.1:n.915-5del
XM_011534462.2:c.915-5del (F12)	XP_011532764.1:n.915-5del
XM_017009773.2:c.1416+6555del (SLC34A1)	XP_016865262.1:n.1416+6555del
NM_000505.4:c.1251-5del (F12) MANE Select	NP_000496.2:n.1251-5del