Canonical Allele Identifier: CA3581219

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs779324705
• ExAC: 5:176830625 G / GA
• gnomAD v2: 5-176830625-G-GA
• gnomAD v4: 5-177403624-G-GA
• MyVariant Identifiers: chr5:g.176830625_176830626insA (hg19) ; chr5:g.177403624_177403625insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403624_177403625insA , CM000667.2:g.177403624_177403625insA	GRCh38
NC_000005.9:g.176830625_176830626insA , CM000667.1:g.176830625_176830626insA	GRCh37
NC_000005.8:g.176763231_176763232insA	NCBI36
NG_007568.1:g.10952_10953insT , LRG_145:g.10952_10953insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-8_*917-7insT (F12)	ENSP00000512476.1:n.*917-8_*917-7insT
ENST00000696193.1:c.*1638-8_*1638-7insT (F12)	ENSP00000512477.1:n.*1638-8_*1638-7insT
ENST00000696194.1:c.*841-8_*841-7insT (F12)	ENSP00000512478.1:n.*841-8_*841-7insT
ENST00000696195.1:n.4054-8_4054-7insT (F12)
ENST00000696200.1:n.1587_1588insT (F12)
ENST00000696201.1:c.1251-8_1251-7insT (F12)	ENSP00000512482.1:n.1251-8_1251-7insT
ENST00000253496.4:c.1251-8_1251-7insT (F12) MANE Select	ENSP00000253496.3:n.1251-8_1251-7insT
ENST00000253496.3:c.1251-8_1251-7insT (F12)	ENSP00000253496.3:n.1251-8_1251-7insT
ENST00000502598.5:c.-45+98_-45+99insA (GRK6)	ENSP00000422873.1:n.-45+98_-45+99insA
ENST00000502854.5:n.743_744insT (F12)
ENST00000503736.1:n.623-8_623-7insT (F12)
ENST00000504406.5:n.126_127insT (F12)
ENST00000510358.5:n.848_849insT (F12)
NM_000505.3:c.1251-8_1251-7insT , LRG_145t1:c.1251-8_1251-7insT (F12)	NP_000496.2:n.1251-8_1251-7insT
XM_011534461.1:c.1251-8_1251-7insT (F12)	XP_011532763.1:n.1251-8_1251-7insT
XM_011534462.1:c.915-8_915-7insT (F12)	XP_011532764.1:n.915-8_915-7insT
XM_011534462.2:c.915-8_915-7insT (F12)	XP_011532764.1:n.915-8_915-7insT
XM_017009773.2:c.1416+6550_1416+6551insA (SLC34A1)	XP_016865262.1:n.1416+6550_1416+6551insA
NM_000505.4:c.1251-8_1251-7insT (F12) MANE Select	NP_000496.2:n.1251-8_1251-7insT