Canonical Allele Identifier: CA617506069

Gene: SPRED1

Linked Data

• dbSNP Id: rs1331224212
• gnomAD v2: 15-38644504-TTAA-T
• gnomAD v3: 15-38352303-TTAA-T
• gnomAD v4: 15-38352303-TTAA-T
• MyVariant Identifiers: chr15:g.38644505_38644507del (hg19) ; chr15:g.38352304_38352306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38352308_38352310del , CM000677.2:g.38352308_38352310del	GRCh38
NC_000015.9:g.38644509_38644511del , CM000677.1:g.38644509_38644511del	GRCh37
NC_000015.8:g.36431801_36431803del	NCBI36
NG_008980.1:g.104458_104460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.*644_*646del MANE Select	ENSP00000299084.4:n.*644_*646del
ENST00000299084.8:c.*644_*646del	ENSP00000299084.4:n.*644_*646del
NM_152594.2:c.*644_*646del	NP_689807.1:n.*644_*646del
XM_005254202.2:c.*644_*646del	XP_005254259.1:n.*644_*646del
XM_005254203.3:c.*644_*646del	XP_005254260.1:n.*644_*646del
XM_011521288.1:c.*644_*646del	XP_011519590.1:n.*644_*646del
XM_011521289.1:c.*644_*646del	XP_011519591.1:n.*644_*646del
XM_011521290.1:c.*644_*646del	XP_011519592.1:n.*644_*646del
XM_005254202.3:c.*644_*646del	XP_005254259.1:n.*644_*646del
XM_011521289.3:c.*644_*646del	XP_011519591.1:n.*644_*646del
NM_152594.3:c.*644_*646del MANE Select	NP_689807.1:n.*644_*646del