Canonical Allele Identifier: CA2711005525

Gene: SLC34A1

Linked Data

• dbSNP Id: rs2127346454

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177386231_177386251del , CM000667.2:g.177386231_177386251del	GRCh38
NC_000005.9:g.176813232_176813252del , CM000667.1:g.176813232_176813252del	GRCh37
NC_000005.8:g.176745838_176745858del	NCBI36
NG_016223.1:g.6801_6821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324417.6:c.270_290del MANE Select	ENSP00000321424.4:p.Val91_Ala97del
ENST00000324417.5:c.270_290del	ENSP00000321424.4:p.Val91_Ala97del
ENST00000504577.5:c.270_290del	ENSP00000423733.1:p.Val91_Ala97del
ENST00000507685.5:n.354_374del
ENST00000512593.5:c.270_290del	ENSP00000423022.1:p.Val91_Ala97del
NM_001167579.1:c.270_290del	NP_001161051.1:p.Val91_Ala97del
NM_003052.4:c.270_290del	NP_003043.3:p.Val91_Ala97del
XM_005265975.1:c.270_290del	XP_005266032.1:p.Val91_Ala97del
XR_941112.1:n.317_337del
XR_941113.1:n.317_337del
XM_017009773.2:c.270_290del	XP_016865262.1:p.Val91_Ala97del
XM_017009775.2:c.270_290del	XP_016865264.1:p.Val91_Ala97del
XM_024446191.1:c.270_290del	XP_024301959.1:p.Val91_Ala97del
XR_941112.2:n.371_391del
XR_941113.2:n.371_391del
NM_003052.5:c.270_290del MANE Select	NP_003043.3:p.Val91_Ala97del
NM_001167579.2:c.270_290del	NP_001161051.1:p.Val91_Ala97del