Canonical Allele Identifier: CA2676711595

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404471-AGGGGTCACCCAGCCCCACGCGGCGCACCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404473_177404501del , CM000667.2:g.177404473_177404501del	GRCh38
NC_000005.9:g.176831474_176831502del , CM000667.1:g.176831474_176831502del	GRCh37
NC_000005.8:g.176764080_176764108del	NCBI36
NG_007568.1:g.10077_10105del , LRG_145:g.10077_10105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*465_*466+27del (F12)
ENST00000696193.1:c.*1169_*1170+27del (F12)
ENST00000696194.1:c.*389_*390+27del (F12)
ENST00000696195.1:n.3602_3603+27del (F12)
ENST00000696200.1:n.902_903+27del (F12)
ENST00000696201.1:c.799_800+27del (F12)
ENST00000253496.4:c.799_800+27del (F12)
ENST00000253496.3:c.799_800+27del (F12)
ENST00000502598.5:c.-45+947_-45+975del (GRK6)	ENSP00000422873.1:n.-45+947_-45+975del
ENST00000503736.1:n.173-87_173-59del (F12)
ENST00000506296.5:c.-129_-101del (GRK6)	ENSP00000421055.1:n.-129_-101del
NM_000505.3:c.799_800+27del , LRG_145t1:c.799_800+27del (F12)
XM_011534461.1:c.799_800+27del (F12)
XM_011534462.1:c.463_464+27del (F12)
XM_011534462.2:c.463_464+27del (F12)
XM_017009773.2:c.1417-7291_1417-7263del (SLC34A1)	XP_016865262.1:n.1417-7291_1417-7263del
NM_000505.4:c.799_800+27del (F12)