Canonical Allele Identifier: CA2676713825

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177406101-T-TCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406103_177406105dup , CM000667.2:g.177406103_177406105dup	GRCh38
NC_000005.9:g.176833104_176833106dup , CM000667.1:g.176833104_176833106dup	GRCh37
NC_000005.8:g.176765710_176765712dup	NCBI36
NG_007568.1:g.8473_8475dup , LRG_145:g.8473_8475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.116-43_116-41dup (F12)	ENSP00000512476.1:n.116-43_116-41dup
ENST00000696193.1:c.141_143dup (F12)	ENSP00000512477.1:p.Ter48CysfsTer2
ENST00000696194.1:c.116-43_116-41dup (F12)	ENSP00000512478.1:n.116-43_116-41dup
ENST00000696195.1:n.2430_2432dup (F12)
ENST00000696200.1:n.219-43_219-41dup (F12)
ENST00000696201.1:c.116-43_116-41dup (F12)	ENSP00000512482.1:n.116-43_116-41dup
ENST00000253496.4:c.116-43_116-41dup (F12) MANE Select	ENSP00000253496.3:n.116-43_116-41dup
ENST00000253496.3:c.116-43_116-41dup (F12)	ENSP00000253496.3:n.116-43_116-41dup
ENST00000502598.5:c.-45+2577_-45+2579dup (GRK6)	ENSP00000422873.1:n.-45+2577_-45+2579dup
ENST00000506296.5:c.-45+1546_-45+1548dup (GRK6)	ENSP00000421055.1:n.-45+1546_-45+1548dup
NM_000505.3:c.116-43_116-41dup , LRG_145t1:c.116-43_116-41dup (F12)	NP_000496.2:n.116-43_116-41dup
XM_011534461.1:c.116-43_116-41dup (F12)	XP_011532763.1:n.116-43_116-41dup
XM_017009773.2:c.1417-5661_1417-5659dup (SLC34A1)	XP_016865262.1:n.1417-5661_1417-5659dup
NM_000505.4:c.116-43_116-41dup (F12) MANE Select	NP_000496.2:n.116-43_116-41dup