Canonical Allele Identifier: CA2769563869

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403627_177403629dup , CM000667.2:g.177403627_177403629dup	GRCh38
NC_000005.9:g.176830628_176830630dup , CM000667.1:g.176830628_176830630dup	GRCh37
NC_000005.8:g.176763234_176763236dup	NCBI36
NG_007568.1:g.10953_10955dup , LRG_145:g.10953_10955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-7_*917-5dup (F12)	ENSP00000512476.1:n.*917-7_*917-5dup
ENST00000696193.1:c.*1638-7_*1638-5dup (F12)	ENSP00000512477.1:n.*1638-7_*1638-5dup
ENST00000696194.1:c.*841-7_*841-5dup (F12)	ENSP00000512478.1:n.*841-7_*841-5dup
ENST00000696195.1:n.4054-7_4054-5dup (F12)
ENST00000696200.1:n.1588_1590dup (F12)
ENST00000696201.1:c.1251-7_1251-5dup (F12)	ENSP00000512482.1:n.1251-7_1251-5dup
ENST00000253496.4:c.1251-7_1251-5dup (F12) MANE Select	ENSP00000253496.3:n.1251-7_1251-5dup
ENST00000253496.3:c.1251-7_1251-5dup (F12)	ENSP00000253496.3:n.1251-7_1251-5dup
ENST00000502598.5:c.-45+101_-45+103dup (GRK6)	ENSP00000422873.1:n.-45+101_-45+103dup
ENST00000502854.5:n.744_746dup (F12)
ENST00000503736.1:n.623-7_623-5dup (F12)
ENST00000504406.5:n.127_129dup (F12)
ENST00000510358.5:n.849_851dup (F12)
NM_000505.3:c.1251-7_1251-5dup , LRG_145t1:c.1251-7_1251-5dup (F12)	NP_000496.2:n.1251-7_1251-5dup
XM_011534461.1:c.1251-7_1251-5dup (F12)	XP_011532763.1:n.1251-7_1251-5dup
XM_011534462.1:c.915-7_915-5dup (F12)	XP_011532764.1:n.915-7_915-5dup
XM_011534462.2:c.915-7_915-5dup (F12)	XP_011532764.1:n.915-7_915-5dup
XM_017009773.2:c.1416+6553_1416+6555dup (SLC34A1)	XP_016865262.1:n.1416+6553_1416+6555dup
NM_000505.4:c.1251-7_1251-5dup (F12) MANE Select	NP_000496.2:n.1251-7_1251-5dup