Canonical Allele Identifier: CA937450501

Gene: ALX4

Linked Data

• gnomAD v3: 11-44265016-G-GACTGCCAGCCCCAGACACACTCAGCGTCACCGACTTCCTGAGTGTGTCA
• gnomAD v4: 11-44265016-G-GACTGCCAGCCCCAGACACACTCAGCGTCACCGACTTCCTGAGTGTGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44265016_44265017insACTGCCAGCCCCAGACACACTCAGCGTCACCGACTTCCTGAGTGTGTCA , CM000673.2:g.44265016_44265017insACTGCCAGCCCCAGACACACTCAGCGTCACCGACTTCCTGAGTGTGTCA	GRCh38
NC_000011.9:g.44286566_44286567insACTGCCAGCCCCAGACACACTCAGCGTCACCGACTTCCTGAGTGTGTCA , CM000673.1:g.44286566_44286567insACTGCCAGCCCCAGACACACTCAGCGTCACCGACTTCCTGAGTGTGTCA	GRCh37
NC_000011.8:g.44243142_44243143insACTGCCAGCCCCAGACACACTCAGCGTCACCGACTTCCTGAGTGTGTCA	NCBI36
NG_015809.1:g.50150_50151insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000652299.1:c.1073_1074insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT MANE Select	ENSP00000498217.1:p.Val359AspfsTer?
ENST00000329255.3:c.1073_1074insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT	ENSP00000332744.3:p.Val359AspfsTer?
NM_021926.3:c.1073_1074insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT	NP_068745.2:p.Val359AspfsTer?
XM_011520265.1:c.551_552insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT	XP_011518567.1:p.Val185AspfsTer?
XM_011520266.1:c.551_552insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT	XP_011518568.1:p.Val185AspfsTer?
NM_021926.4:c.1073_1074insTGACACACTCAGGAAGTCGGTGACGCTGAGTGTGTCTGGGGCTGGCAGT MANE Select	NP_068745.2:p.Val359AspfsTer?