Canonical Allele Identifier: CA2740710278

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403652_177403653insGCTG , CM000667.2:g.177403652_177403653insGCTG	GRCh38
NC_000005.9:g.176830653_176830654insGCTG , CM000667.1:g.176830653_176830654insGCTG	GRCh37
NC_000005.8:g.176763259_176763260insGCTG	NCBI36
NG_007568.1:g.10925_10926insAGCC , LRG_145:g.10925_10926insAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-35_*917-34insAGCC (F12)	ENSP00000512476.1:n.*917-35_*917-34insAGCC
ENST00000696193.1:c.*1638-35_*1638-34insAGCC (F12)	ENSP00000512477.1:n.*1638-35_*1638-34insAGCC
ENST00000696194.1:c.*841-35_*841-34insAGCC (F12)	ENSP00000512478.1:n.*841-35_*841-34insAGCC
ENST00000696195.1:n.4054-35_4054-34insAGCC (F12)
ENST00000696200.1:n.1560_1561insAGCC (F12)
ENST00000696201.1:c.1251-35_1251-34insAGCC (F12)	ENSP00000512482.1:n.1251-35_1251-34insAGCC
ENST00000253496.4:c.1251-35_1251-34insAGCC (F12) MANE Select	ENSP00000253496.3:n.1251-35_1251-34insAGCC
ENST00000253496.3:c.1251-35_1251-34insAGCC (F12)	ENSP00000253496.3:n.1251-35_1251-34insAGCC
ENST00000502598.5:c.-45+126_-45+127insGCTG (GRK6)	ENSP00000422873.1:n.-45+126_-45+127insGCTG
ENST00000502854.5:n.716_717insAGCC (F12)
ENST00000503736.1:n.623-35_623-34insAGCC (F12)
ENST00000504406.5:n.99_100insAGCC (F12)
ENST00000510358.5:n.821_822insAGCC (F12)
NM_000505.3:c.1251-35_1251-34insAGCC , LRG_145t1:c.1251-35_1251-34insAGCC (F12)	NP_000496.2:n.1251-35_1251-34insAGCC
XM_011534461.1:c.1251-35_1251-34insAGCC (F12)	XP_011532763.1:n.1251-35_1251-34insAGCC
XM_011534462.1:c.915-35_915-34insAGCC (F12)	XP_011532764.1:n.915-35_915-34insAGCC
XM_011534462.2:c.915-35_915-34insAGCC (F12)	XP_011532764.1:n.915-35_915-34insAGCC
XM_017009773.2:c.1416+6578_1416+6579insGCTG (SLC34A1)	XP_016865262.1:n.1416+6578_1416+6579insGCTG
NM_000505.4:c.1251-35_1251-34insAGCC (F12) MANE Select	NP_000496.2:n.1251-35_1251-34insAGCC