Canonical Allele Identifier: CA2676714559

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177403687-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403690del , CM000667.2:g.177403690del	GRCh38
NC_000005.9:g.176830691del , CM000667.1:g.176830691del	GRCh37
NC_000005.8:g.176763297del	NCBI36
NG_007568.1:g.10889del , LRG_145:g.10889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-71del (F12)	ENSP00000512476.1:n.*917-71del
ENST00000696193.1:c.*1638-71del (F12)	ENSP00000512477.1:n.*1638-71del
ENST00000696194.1:c.*841-71del (F12)	ENSP00000512478.1:n.*841-71del
ENST00000696195.1:n.4054-71del (F12)
ENST00000696200.1:n.1524del (F12)
ENST00000696201.1:c.1251-71del (F12)	ENSP00000512482.1:n.1251-71del
ENST00000253496.4:c.1251-71del (F12) MANE Select	ENSP00000253496.3:n.1251-71del
ENST00000253496.3:c.1251-71del (F12)	ENSP00000253496.3:n.1251-71del
ENST00000502598.5:c.-45+164del (GRK6)	ENSP00000422873.1:n.-45+164del
ENST00000502854.5:n.680del (F12)
ENST00000503736.1:n.623-71del (F12)
ENST00000504406.5:n.63del (F12)
ENST00000510358.5:n.785del (F12)
NM_000505.3:c.1251-71del , LRG_145t1:c.1251-71del (F12)	NP_000496.2:n.1251-71del
XM_011534461.1:c.1251-71del (F12)	XP_011532763.1:n.1251-71del
XM_011534462.1:c.915-71del (F12)	XP_011532764.1:n.915-71del
XM_011534462.2:c.915-71del (F12)	XP_011532764.1:n.915-71del
XM_017009773.2:c.1416+6616del (SLC34A1)	XP_016865262.1:n.1416+6616del
NM_000505.4:c.1251-71del (F12) MANE Select	NP_000496.2:n.1251-71del