Canonical Allele Identifier: CA2513772032
Gene: SPRED1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351550_38351571del , CM000677.2:g.38351550_38351571del GRCh38
NC_000015.9:g.38643751_38643772del , CM000677.1:g.38643751_38643772del GRCh37
NC_000015.8:g.36431043_36431064del NCBI36
NG_008980.1:g.103700_103721del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1221_1242del MANE Select ENSP00000299084.4:p.Val408HisfsTer9
ENST00000299084.8:c.1221_1242del ENSP00000299084.4:p.Val408HisfsTer9
NM_152594.2:c.1221_1242del NP_689807.1:p.Val408HisfsTer9
XM_005254202.2:c.1257_1278del XP_005254259.1:p.Val420HisfsTer9
XM_005254203.3:c.999_1020del XP_005254260.1:p.Val334HisfsTer9
XM_011521288.1:c.1158_1179del XP_011519590.1:p.Val387HisfsTer9
XM_011521289.1:c.1158_1179del XP_011519591.1:p.Val387HisfsTer9
XM_011521290.1:c.1158_1179del XP_011519592.1:p.Val387HisfsTer9
XM_005254202.3:c.1257_1278del XP_005254259.1:p.Val420HisfsTer9
XM_011521289.3:c.1158_1179del XP_011519591.1:p.Val387HisfsTer9
NM_152594.3:c.1221_1242del MANE Select NP_689807.1:p.Val408HisfsTer9