Canonical Allele Identifier: CA2635781122
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221435_7221450del , CM000679.2:g.7221435_7221450del GRCh38
NC_000017.10:g.7124754_7124769del , CM000679.1:g.7124754_7124769del GRCh37
NC_000017.9:g.7065478_7065493del NCBI36
NG_007975.1:g.6602_6617del
NG_008391.2:g.3601_3616del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-103_478-88del MANE Select ENSP00000349297.5:n.478-103_478-88del
ENST00000322910.9:c.*433-103_*433-88del ENSP00000325395.5:n.*433-103_*433-88del
ENST00000350303.9:c.412-103_412-88del ENSP00000344152.5:n.412-103_412-88del
ENST00000356839.9:c.478-103_478-88del ENSP00000349297.5:n.478-103_478-88del
ENST00000543245.6:c.547-103_547-88del ENSP00000438689.2:n.547-103_547-88del
ENST00000577191.5:n.555-103_555-88del
ENST00000577433.5:n.686-103_686-88del
ENST00000577857.5:n.294-103_294-88del
ENST00000579286.5:n.659-103_659-88del
ENST00000579886.2:c.316-103_316-88del ENSP00000463246.1:n.316-103_316-88del
ENST00000580365.1:n.209-103_209-88del
ENST00000581378.5:c.177-84_177-69del
ENST00000581562.5:n.524+377_524+392del
ENST00000582166.1:n.459-103_459-88del
ENST00000583312.5:c.478-103_478-88del ENSP00000467920.1:n.478-103_478-88del
ENST00000583760.1:n.157_172del
NM_000018.3:c.478-103_478-88del NP_000009.1:n.478-103_478-88del
NM_001033859.2:c.412-103_412-88del NP_001029031.1:n.412-103_412-88del
NM_001270447.1:c.547-103_547-88del NP_001257376.1:n.547-103_547-88del
NM_001270448.1:c.250-103_250-88del NP_001257377.1:n.250-103_250-88del
XM_006721516.2:c.478-103_478-88del XP_006721579.2:n.478-103_478-88del
XM_011523829.1:c.478-103_478-88del XP_011522131.1:n.478-103_478-88del
XM_011523830.1:c.478-103_478-88del XP_011522132.1:n.478-103_478-88del
XR_934021.1:n.585-103_585-88del
XR_934022.1:n.585-103_585-88del
XR_934023.1:n.585-103_585-88del
XM_006721516.3:c.478-103_478-88del XP_006721579.2:n.478-103_478-88del
XM_011523829.2:c.478-103_478-88del XP_011522131.1:n.478-103_478-88del
XM_011523830.2:c.478-103_478-88del XP_011522132.1:n.478-103_478-88del
XM_024450741.1:c.478-103_478-88del XP_024306509.1:n.478-103_478-88del
XR_934021.2:n.537-103_537-88del
XR_934022.2:n.537-103_537-88del
XR_934023.2:n.537-103_537-88del
NM_000018.4:c.478-103_478-88del MANE Select NP_000009.1:n.478-103_478-88del
NM_001033859.3:c.412-103_412-88del NP_001029031.1:n.412-103_412-88del
NM_001270447.2:c.547-103_547-88del NP_001257376.1:n.547-103_547-88del
NM_001270448.2:c.250-103_250-88del NP_001257377.1:n.250-103_250-88del