Canonical Allele Identifier: CA2740710280

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403655_177403656insAGGCCCCTTGTGGCGTGTGGCGAGGGTATA , CM000667.2:g.177403655_177403656insAGGCCCCTTGTGGCGTGTGGCGAGGGTATA	GRCh38
NC_000005.9:g.176830656_176830657insAGGCCCCTTGTGGCGTGTGGCGAGGGTATA , CM000667.1:g.176830656_176830657insAGGCCCCTTGTGGCGTGTGGCGAGGGTATA	GRCh37
NC_000005.8:g.176763262_176763263insAGGCCCCTTGTGGCGTGTGGCGAGGGTATA	NCBI36
NG_007568.1:g.10921_10922insTATACCCTCGCCACACGCCACAAGGGGCCT , LRG_145:g.10921_10922insTATACCCTCGCCACACGCCACAAGGGGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-39_*917-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	ENSP00000512476.1:n.*917-39_*917-38insTATACCCTCGCCACACGCCACAA...
ENST00000696193.1:c.*1638-39_*1638-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	ENSP00000512477.1:n.*1638-39_*1638-38insTATACCCTCGCCACACGCCAC...
ENST00000696194.1:c.*841-39_*841-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	ENSP00000512478.1:n.*841-39_*841-38insTATACCCTCGCCACACGCCACAA...
ENST00000696195.1:n.4054-39_4054-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)
ENST00000696200.1:n.1556_1557insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)
ENST00000696201.1:c.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	ENSP00000512482.1:n.1251-39_1251-38insTATACCCTCGCCACACGCCACAA...
ENST00000253496.4:c.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12) MANE Select	ENSP00000253496.3:n.1251-39_1251-38insTATACCCTCGCCACACGCCACAA...
ENST00000253496.3:c.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	ENSP00000253496.3:n.1251-39_1251-38insTATACCCTCGCCACACGCCACAA...
ENST00000502598.5:c.-45+129_-45+130insAGGCCCCTTGTGGCGTGTGGCGAGGGTATA (GRK6)	ENSP00000422873.1:n.-45+129_-45+130insAGGCCCCTTGTGGCGTGTGGCGA...
ENST00000502854.5:n.712_713insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)
ENST00000503736.1:n.623-39_623-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)
ENST00000504406.5:n.95_96insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)
ENST00000510358.5:n.817_818insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)
NM_000505.3:c.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCCT , LRG_145t1:c.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	NP_000496.2:n.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCC...
XM_011534461.1:c.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	XP_011532763.1:n.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGG...
XM_011534462.1:c.915-39_915-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	XP_011532764.1:n.915-39_915-38insTATACCCTCGCCACACGCCACAAGGGGC...
XM_011534462.2:c.915-39_915-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12)	XP_011532764.1:n.915-39_915-38insTATACCCTCGCCACACGCCACAAGGGGC...
XM_017009773.2:c.1416+6581_1416+6582insAGGCCCCTTGTGGCGTGTGGCGAGGGTATA (SLC34A1)	XP_016865262.1:n.1416+6581_1416+6582insAGGCCCCTTGTGGCGTGTGGCG...
NM_000505.4:c.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCCT (F12) MANE Select	NP_000496.2:n.1251-39_1251-38insTATACCCTCGCCACACGCCACAAGGGGCC...