Canonical Allele Identifier: CA1603608428

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403621_177403622delinsCG , CM000667.2:g.177403621_177403622delinsCG	GRCh38
NC_000005.9:g.176830622_176830623delinsCG , CM000667.1:g.176830622_176830623delinsCG	GRCh37
NC_000005.8:g.176763228_176763229delinsCG	NCBI36
NG_007568.1:g.10955_10956delinsCG , LRG_145:g.10955_10956delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-5_*917-4delinsCG (F12)	ENSP00000512476.1:n.*917-5_*917-4delinsCG
ENST00000696193.1:c.*1638-5_*1638-4delinsCG (F12)	ENSP00000512477.1:n.*1638-5_*1638-4delinsCG
ENST00000696194.1:c.*841-5_*841-4delinsCG (F12)	ENSP00000512478.1:n.*841-5_*841-4delinsCG
ENST00000696195.1:n.4054-5_4054-4delinsCG (F12)
ENST00000696200.1:n.1590_1591delinsCG (F12)
ENST00000696201.1:c.1251-5_1251-4delinsCG (F12)	ENSP00000512482.1:n.1251-5_1251-4delinsCG
ENST00000253496.4:c.1251-5_1251-4delinsCG (F12) MANE Select	ENSP00000253496.3:n.1251-5_1251-4delinsCG
ENST00000253496.3:c.1251-5_1251-4delinsCG (F12)	ENSP00000253496.3:n.1251-5_1251-4delinsCG
ENST00000502598.5:c.-45+95_-45+96delinsCG (GRK6)	ENSP00000422873.1:n.-45+95_-45+96delinsCG
ENST00000502854.5:n.746_747delinsCG (F12)
ENST00000503736.1:n.623-5_623-4delinsCG (F12)
ENST00000504406.5:n.129_130delinsCG (F12)
ENST00000510358.5:n.851_852delinsCG (F12)
NM_000505.3:c.1251-5_1251-4delinsCG , LRG_145t1:c.1251-5_1251-4delinsCG (F12)	NP_000496.2:n.1251-5_1251-4delinsCG
XM_011534461.1:c.1251-5_1251-4delinsCG (F12)	XP_011532763.1:n.1251-5_1251-4delinsCG
XM_011534462.1:c.915-5_915-4delinsCG (F12)	XP_011532764.1:n.915-5_915-4delinsCG
XM_011534462.2:c.915-5_915-4delinsCG (F12)	XP_011532764.1:n.915-5_915-4delinsCG
XM_017009773.2:c.1416+6547_1416+6548delinsCG (SLC34A1)	XP_016865262.1:n.1416+6547_1416+6548delinsCG
NM_000505.4:c.1251-5_1251-4delinsCG (F12) MANE Select	NP_000496.2:n.1251-5_1251-4delinsCG