Canonical Allele Identifier: CA564899946

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1561641012
• gnomAD v2: 5-176831201-CG-C
• gnomAD v4: 5-177404200-CG-C
• MyVariant Identifiers: chr5:g.176831202del (hg19) ; chr5:g.177404201del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404204del , CM000667.2:g.177404204del	GRCh38
NC_000005.9:g.176831205del , CM000667.1:g.176831205del	GRCh37
NC_000005.8:g.176763811del	NCBI36
NG_007568.1:g.10376del , LRG_145:g.10376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*679del (F12)	ENSP00000512476.1:n.*679del
ENST00000696193.1:c.*1383del (F12)	ENSP00000512477.1:n.*1383del
ENST00000696194.1:c.*603del (F12)	ENSP00000512478.1:n.*603del
ENST00000696195.1:n.3816del (F12)
ENST00000696200.1:n.1116del (F12)
ENST00000696201.1:c.1013del (F12)	ENSP00000512482.1:p.Pro338ArgfsTer14
ENST00000253496.4:c.1013del (F12) MANE Select	ENSP00000253496.3:p.Pro338ArgfsTer14
ENST00000253496.3:c.1013del (F12)	ENSP00000253496.3:p.Pro338ArgfsTer14
ENST00000502598.5:c.-45+678del (GRK6)	ENSP00000422873.1:n.-45+678del
ENST00000502854.5:n.272del (F12)
ENST00000503736.1:n.385del (F12)
ENST00000510358.5:n.272del (F12)
NM_000505.3:c.1013del , LRG_145t1:c.1013del (F12)	NP_000496.2:p.Pro338ArgfsTer14
XM_011534461.1:c.1013del (F12)	XP_011532763.1:p.Pro338ArgfsTer14
XM_011534462.1:c.677del (F12)	XP_011532764.1:p.Pro226ArgfsTer14
XM_011534462.2:c.677del (F12)	XP_011532764.1:p.Pro226ArgfsTer14
XM_017009773.2:c.1416+7130del (SLC34A1)	XP_016865262.1:n.1416+7130del
NM_000505.4:c.1013del (F12) MANE Select	NP_000496.2:p.Pro338ArgfsTer14