Canonical Allele Identifier: CA2599389399

Gene: EXOC3L4

Linked Data

• gnomAD v3: 14-103100787-ATGCAGTGGTGCAATCACAGCTCACTGCGACCTTGGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAACTTTCTGAGTAGCTGGGACTACAGGTGTAAGCCACTGCACCCGGCTAATTTTTTTTTTTTTTTTTTGACACTGACTCTCACTCTATCACCCAGGCTGGAG-A
• gnomAD v4: 14-103100787-ATGCAGTGGTGCAATCACAGCTCACTGCGACCTTGGCCTCCTGGGCTCAAGCGATCCTCCCACCTCAACTTTCTGAGTAGCTGGGACTACAGGTGTAAGCCACTGCACCCGGCTAATTTTTTTTTTTTTTTTTTGACACTGACTCTCACTCTATCACCCAGGCTGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103100795_103100961del , CM000676.2:g.103100795_103100961del	GRCh38
NC_000014.8:g.103567132_103567298del , CM000676.1:g.103567132_103567298del	GRCh37
NC_000014.7:g.102636885_102637051del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687959.1:c.394+182_394+348del	ENSP00000508483.1:n.394+182_394+348del
ENST00000688303.1:c.394+182_394+348del MANE Select	ENSP00000509130.1:n.394+182_394+348del
ENST00000380069.7:c.394+182_394+348del	ENSP00000369409.3:n.394+182_394+348del
ENST00000559116.1:c.286+182_286+348del	ENSP00000454163.1:n.286+182_286+348del
NM_001077594.1:c.394+182_394+348del	NP_001071062.1:n.394+182_394+348del
XM_011537323.1:c.568+182_568+348del	XP_011535625.1:n.568+182_568+348del
XM_011537324.1:c.568+182_568+348del	XP_011535626.1:n.568+182_568+348del
XM_011537325.1:c.394+182_394+348del	XP_011535627.1:n.394+182_394+348del
XM_011537326.1:c.394+182_394+348del	XP_011535628.1:n.394+182_394+348del
XM_011537327.1:c.394+182_394+348del	XP_011535629.1:n.394+182_394+348del
XM_011537328.1:c.394+182_394+348del	XP_011535630.1:n.394+182_394+348del
XM_011537329.1:c.394+182_394+348del	XP_011535631.1:n.394+182_394+348del
XM_011537330.1:c.394+182_394+348del	XP_011535632.1:n.394+182_394+348del
XM_011537331.1:c.394+182_394+348del	XP_011535633.1:n.394+182_394+348del
XM_011537332.1:c.394+182_394+348del	XP_011535634.1:n.394+182_394+348del
XM_011537333.1:c.505+182_505+348del	XP_011535635.1:n.505+182_505+348del
XM_011537334.1:c.-882+182_-882+348del	XP_011535636.1:n.-882+182_-882+348del
XR_943558.1:n.1123+182_1123+348del
XM_011537323.3:c.568+182_568+348del	XP_011535625.1:n.568+182_568+348del
XM_011537324.2:c.568+182_568+348del	XP_011535626.1:n.568+182_568+348del
XM_011537325.2:c.394+182_394+348del	XP_011535627.1:n.394+182_394+348del
XM_011537327.2:c.394+182_394+348del	XP_011535629.1:n.394+182_394+348del
XM_011537328.2:c.394+182_394+348del	XP_011535630.1:n.394+182_394+348del
XM_011537329.2:c.394+182_394+348del	XP_011535631.1:n.394+182_394+348del
XM_011537330.2:c.394+182_394+348del	XP_011535632.1:n.394+182_394+348del
XM_011537332.2:c.394+182_394+348del	XP_011535634.1:n.394+182_394+348del
XM_011537333.2:c.505+182_505+348del	XP_011535635.1:n.505+182_505+348del
XR_943558.2:n.1150+182_1150+348del
NM_001077594.2:c.394+182_394+348del MANE Select	NP_001071062.1:n.394+182_394+348del
NM_001394941.1:c.394+182_394+348del	NP_001381870.1:n.394+182_394+348del
NM_001394942.1:c.394+182_394+348del	NP_001381871.1:n.394+182_394+348del