Canonical Allele Identifier: CA624860763

Gene: ACADVL

Linked Data

• dbSNP Id: rs1192379434
• gnomAD v2: 17-7127744-TCAGGGACTGCAG-T
• gnomAD v4: 17-7224425-TCAGGGACTGCAG-T
• MyVariant Identifiers: chr17:g.7127745_7127756del (hg19) ; chr17:g.7224426_7224437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224427_7224438del , CM000679.2:g.7224427_7224438del	GRCh38
NC_000017.10:g.7127746_7127757del , CM000679.1:g.7127746_7127757del	GRCh37
NC_000017.9:g.7068470_7068481del	NCBI36
NG_007975.1:g.9594_9605del
NG_008391.2:g.614_625del
NG_033038.1:g.15108_15119del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1605+34_1606-42del MANE Select	ENSP00000349297.5:n.1605+34_1606-42del
ENST00000322910.9:c.*1560+34_*1561-42del	ENSP00000325395.5:n.*1560+34_*1561-42del
ENST00000350303.9:c.1539+34_1540-42del	ENSP00000344152.5:n.1539+34_1540-42del
ENST00000356839.9:c.1605+34_1606-42del	ENSP00000349297.5:n.1605+34_1606-42del
ENST00000542255.6:c.463+34_464-42del
ENST00000543245.6:c.1674+34_1675-42del	ENSP00000438689.2:n.1674+34_1675-42del
ENST00000578319.5:n.134_145del
ENST00000578711.1:n.923_934del
ENST00000578809.5:n.177+34_178-42del
ENST00000579391.1:n.213+34_214-46del
ENST00000579425.5:n.721+34_722-42del
ENST00000579546.1:c.344+34_345-46del
ENST00000579894.5:n.392+34_393-42del
ENST00000582450.1:n.113+34_114-42del
ENST00000583074.5:n.226+34_227-42del
ENST00000583850.5:n.380+34_381-46del
ENST00000583858.5:c.536+34_537-42del
ENST00000585203.6:n.796+34_797-42del
NM_000018.3:c.1605+34_1606-42del	NP_000009.1:n.1605+34_1606-42del
NM_001033859.2:c.1539+34_1540-42del	NP_001029031.1:n.1539+34_1540-42del
NM_001270447.1:c.1674+34_1675-42del	NP_001257376.1:n.1674+34_1675-42del
NM_001270448.1:c.1377+34_1378-42del	NP_001257377.1:n.1377+34_1378-42del
XM_006721516.2:c.1605+34_1606-42del	XP_006721579.2:n.1605+34_1606-42del
XM_011523829.1:c.1507+34_1508-46del	XP_011522131.1:n.1507+34_1508-46del
XM_011523830.1:c.1507+34_1508-46del	XP_011522132.1:n.1507+34_1508-46del
XR_934021.1:n.1712+34_1713-46del
XR_934022.1:n.1614+34_1615-42del
XR_934023.1:n.1614+34_1615-42del
XM_006721516.3:c.1605+34_1606-42del	XP_006721579.2:n.1605+34_1606-42del
XM_011523829.2:c.1507+34_1508-46del	XP_011522131.1:n.1507+34_1508-46del
XM_011523830.2:c.1507+34_1508-46del	XP_011522132.1:n.1507+34_1508-46del
XM_024450741.1:c.1541_1552del	XP_024306509.1:p.Gln514_Gln517del
XR_934021.2:n.1664+34_1665-46del
XR_934022.2:n.1566+34_1567-42del
XR_934023.2:n.1566+34_1567-42del
NM_000018.4:c.1605+34_1606-42del MANE Select	NP_000009.1:n.1605+34_1606-42del
NM_001033859.3:c.1539+34_1540-42del	NP_001029031.1:n.1539+34_1540-42del
NM_001270447.2:c.1674+34_1675-42del	NP_001257376.1:n.1674+34_1675-42del
NM_001270448.2:c.1377+34_1378-42del	NP_001257377.1:n.1377+34_1378-42del