Canonical Allele Identifier: CA1603608435

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1763201260
• gnomAD v4: 5-177403626-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403626_177403627insT , CM000667.2:g.177403626_177403627insT	GRCh38
NC_000005.9:g.176830627_176830628insT , CM000667.1:g.176830627_176830628insT	GRCh37
NC_000005.8:g.176763233_176763234insT	NCBI36
NG_007568.1:g.10950_10951insA , LRG_145:g.10950_10951insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-10_*917-9insA (F12)	ENSP00000512476.1:n.*917-10_*917-9insA
ENST00000696193.1:c.*1638-10_*1638-9insA (F12)	ENSP00000512477.1:n.*1638-10_*1638-9insA
ENST00000696194.1:c.*841-10_*841-9insA (F12)	ENSP00000512478.1:n.*841-10_*841-9insA
ENST00000696195.1:n.4054-10_4054-9insA (F12)
ENST00000696200.1:n.1585_1586insA (F12)
ENST00000696201.1:c.1251-10_1251-9insA (F12)	ENSP00000512482.1:n.1251-10_1251-9insA
ENST00000253496.4:c.1251-10_1251-9insA (F12) MANE Select	ENSP00000253496.3:n.1251-10_1251-9insA
ENST00000253496.3:c.1251-10_1251-9insA (F12)	ENSP00000253496.3:n.1251-10_1251-9insA
ENST00000502598.5:c.-45+100_-45+101insT (GRK6)	ENSP00000422873.1:n.-45+100_-45+101insT
ENST00000502854.5:n.741_742insA (F12)
ENST00000503736.1:n.623-10_623-9insA (F12)
ENST00000504406.5:n.124_125insA (F12)
ENST00000510358.5:n.846_847insA (F12)
NM_000505.3:c.1251-10_1251-9insA , LRG_145t1:c.1251-10_1251-9insA (F12)	NP_000496.2:n.1251-10_1251-9insA
XM_011534461.1:c.1251-10_1251-9insA (F12)	XP_011532763.1:n.1251-10_1251-9insA
XM_011534462.1:c.915-10_915-9insA (F12)	XP_011532764.1:n.915-10_915-9insA
XM_011534462.2:c.915-10_915-9insA (F12)	XP_011532764.1:n.915-10_915-9insA
XM_017009773.2:c.1416+6552_1416+6553insT (SLC34A1)	XP_016865262.1:n.1416+6552_1416+6553insT
NM_000505.4:c.1251-10_1251-9insA (F12) MANE Select	NP_000496.2:n.1251-10_1251-9insA