Canonical Allele Identifier: CA2547381582

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404574_177404600del , CM000667.2:g.177404574_177404600del	GRCh38
NC_000005.9:g.176831575_176831601del , CM000667.1:g.176831575_176831601del	GRCh37
NC_000005.8:g.176764181_176764207del	NCBI36
NG_007568.1:g.9982_10008del , LRG_145:g.9982_10008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*370_*396del (F12)	ENSP00000512476.1:n.*370_*396del
ENST00000696193.1:c.*1074_*1100del (F12)	ENSP00000512477.1:n.*1074_*1100del
ENST00000696194.1:c.*294_*320del (F12)	ENSP00000512478.1:n.*294_*320del
ENST00000696195.1:n.3507_3533del (F12)
ENST00000696200.1:n.807_833del (F12)
ENST00000696201.1:c.704_730del (F12)	ENSP00000512482.1:p.Gly235_Ser243del
ENST00000253496.4:c.704_730del (F12) MANE Select	ENSP00000253496.3:p.Gly235_Ser243del
ENST00000253496.3:c.704_730del (F12)	ENSP00000253496.3:p.Gly235_Ser243del
ENST00000502598.5:c.-45+1048_-45+1074del (GRK6)	ENSP00000422873.1:n.-45+1048_-45+1074del
ENST00000503736.1:n.173-182_173-156del (F12)
ENST00000506296.5:c.-45+17_-45+43del (GRK6)	ENSP00000421055.1:n.-45+17_-45+43del
NM_000505.3:c.704_730del , LRG_145t1:c.704_730del (F12)	NP_000496.2:p.Gly235_Ser243del
XM_011534461.1:c.704_730del (F12)	XP_011532763.1:p.Gly235_Ser243del
XM_011534462.1:c.368_394del (F12)	XP_011532764.1:p.Gly123_Ser131del
XM_011534462.2:c.368_394del (F12)	XP_011532764.1:p.Gly123_Ser131del
XM_017009773.2:c.1417-7190_1417-7164del (SLC34A1)	XP_016865262.1:n.1417-7190_1417-7164del
NM_000505.4:c.704_730del (F12) MANE Select	NP_000496.2:p.Gly235_Ser243del