Canonical Allele Identifier: CA624860782

Gene: ACADVL

Linked Data

• dbSNP Id: rs1318765056
• gnomAD v2: 17-7127912-CCTT-C
• gnomAD v4: 17-7224593-CCTT-C
• MyVariant Identifiers: chr17:g.7127913_7127915del (hg19) ; chr17:g.7224594_7224596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224594_7224596del , CM000679.2:g.7224594_7224596del	GRCh38
NC_000017.10:g.7127913_7127915del , CM000679.1:g.7127913_7127915del	GRCh37
NC_000017.9:g.7068637_7068639del	NCBI36
NG_007975.1:g.9761_9763del
NG_008391.2:g.455_457del
NG_033038.1:g.14949_14951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1678+42_1678+44del MANE Select	ENSP00000349297.5:n.1678+42_1678+44del
ENST00000322910.9:c.*1633+42_*1633+44del	ENSP00000325395.5:n.*1633+42_*1633+44del
ENST00000350303.9:c.1612+42_1612+44del	ENSP00000344152.5:n.1612+42_1612+44del
ENST00000356839.9:c.1678+42_1678+44del	ENSP00000349297.5:n.1678+42_1678+44del
ENST00000542255.6:c.536+42_536+44del
ENST00000543245.6:c.1747+42_1747+44del	ENSP00000438689.2:n.1747+42_1747+44del
ENST00000578319.5:n.259+42_259+44del
ENST00000578711.1:n.1090_1092del
ENST00000578809.5:n.250+42_250+44del
ENST00000579391.1:n.324_326del
ENST00000579425.5:n.794+42_794+44del
ENST00000579546.1:c.413+42_413+44del
ENST00000582450.1:n.228_230del
ENST00000583074.5:n.299+42_299+44del
ENST00000583848.5:c.64+42_64+44del	ENSP00000466487.1:n.64+42_64+44del
ENST00000583850.5:n.449+42_449+44del
ENST00000583858.5:c.609+42_609+44del
ENST00000585203.6:n.869+42_869+44del
NM_000018.3:c.1678+42_1678+44del	NP_000009.1:n.1678+42_1678+44del
NM_001033859.2:c.1612+42_1612+44del	NP_001029031.1:n.1612+42_1612+44del
NM_001270447.1:c.1747+42_1747+44del	NP_001257376.1:n.1747+42_1747+44del
NM_001270448.1:c.1450+42_1450+44del	NP_001257377.1:n.1450+42_1450+44del
XM_006721516.2:c.1678+42_1678+44del	XP_006721579.2:n.1678+42_1678+44del
XM_011523829.1:c.1576+42_1576+44del	XP_011522131.1:n.1576+42_1576+44del
XM_011523830.1:c.1576+42_1576+44del	XP_011522132.1:n.1576+42_1576+44del
XR_934021.1:n.1781+42_1781+44del
XR_934022.1:n.1687+42_1687+44del
XR_934023.1:n.1687+42_1687+44del
XM_006721516.3:c.1678+42_1678+44del	XP_006721579.2:n.1678+42_1678+44del
XM_011523829.2:c.1576+42_1576+44del	XP_011522131.1:n.1576+42_1576+44del
XM_011523830.2:c.1576+42_1576+44del	XP_011522132.1:n.1576+42_1576+44del
XM_024450741.1:c.1666+42_1666+44del	XP_024306509.1:n.1666+42_1666+44del
XR_934021.2:n.1733+42_1733+44del
XR_934022.2:n.1639+42_1639+44del
XR_934023.2:n.1639+42_1639+44del
NM_000018.4:c.1678+42_1678+44del MANE Select	NP_000009.1:n.1678+42_1678+44del
NM_001033859.3:c.1612+42_1612+44del	NP_001029031.1:n.1612+42_1612+44del
NM_001270447.2:c.1747+42_1747+44del	NP_001257376.1:n.1747+42_1747+44del
NM_001270448.2:c.1450+42_1450+44del	NP_001257377.1:n.1450+42_1450+44del