Canonical Allele Identifier: CA2582341856
Gene: CARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.3047790_3047793delinsAAAGCTCCTTTG , CM000673.2:g.3047790_3047793delinsAAAGCTCCTTTG GRCh38
NC_000011.9:g.3069020_3069023delinsAAAGCTCCTTTG , CM000673.1:g.3069020_3069023delinsAAAGCTCCTTTG GRCh37
NC_000011.8:g.3025596_3025599delinsAAAGCTCCTTTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380525.9:c.234_237delinsCAAAGGAGCTTT MANE Select ENSP00000369897.4:p.Ser79LysfsTer?
ENST00000278224.13:c.26-5537_26-5534delinsCAAAGGAGCTTT ENSP00000278224.9:n.26-5537_26-5534delinsCAAAGGAGCTTT
ENST00000380525.8:c.234_237delinsCAAAGGAGCTTT ENSP00000369897.4:p.Ser79LysfsTer?
ENST00000397111.9:c.26-5537_26-5534delinsCAAAGGAGCTTT ENSP00000380300.5:n.26-5537_26-5534delinsCAAAGGAGCTTT
ENST00000439280.6:c.26-5537_26-5534delinsCAAAGGAGCTTT ENSP00000408802.2:n.26-5537_26-5534delinsCAAAGGAGCTTT
ENST00000465331.1:n.304_307delinsCAAAGGAGCTTT
ENST00000524825.5:n.100-5463_100-5460delinsCAAAGGAGCTTT
ENST00000526890.5:n.39-5537_39-5534delinsCAAAGGAGCTTT
ENST00000527330.2:c.26-5537_26-5534delinsCAAAGGAGCTTT ENSP00000434184.1:n.26-5537_26-5534delinsCAAAGGAGCTTT
ENST00000529772.5:c.65-5537_65-5534delinsCAAAGGAGCTTT ENSP00000432619.2:n.65-5537_65-5534delinsCAAAGGAGCTTT
ENST00000531387.5:c.234_237delinsCAAAGGAGCTTT ENSP00000431368.1:p.Ser79LysfsTer?
NM_001014437.2:c.234_237delinsCAAAGGAGCTTT NP_001014437.1:p.Ser79LysfsTer?
NM_001194997.1:c.234_237delinsCAAAGGAGCTTT NP_001181926.1:p.Ser79LysfsTer?
NM_001751.5:c.26-5537_26-5534delinsCAAAGGAGCTTT NP_001742.1:n.26-5537_26-5534delinsCAAAGGAGCTTT
NM_139273.3:c.26-5537_26-5534delinsCAAAGGAGCTTT NP_644802.1:n.26-5537_26-5534delinsCAAAGGAGCTTT
NR_036542.1:n.318_321delinsCAAAGGAGCTTT
XM_006718341.2:c.-52-5537_-52-5534delinsCAAAGGAGCTTT XP_006718404.1:n.-52-5537_-52-5534delinsCAAAGGAGCTTT
XR_428857.1:n.290_293delinsCAAAGGAGCTTT
XR_930913.1:n.290_293delinsCAAAGGAGCTTT
XR_930914.1:n.290_293delinsCAAAGGAGCTTT
XM_006718341.3:c.-52-5537_-52-5534delinsCAAAGGAGCTTT XP_006718404.1:n.-52-5537_-52-5534delinsCAAAGGAGCTTT
XM_017018389.1:c.-52-5537_-52-5534delinsCAAAGGAGCTTT XP_016873878.1:n.-52-5537_-52-5534delinsCAAAGGAGCTTT
XM_017018390.1:c.-93_-90delinsCAAAGGAGCTTT XP_016873879.1:n.-93_-90delinsCAAAGGAGCTTT
XM_017018392.2:c.65-5537_65-5534delinsCAAAGGAGCTTT XP_016873881.1:n.65-5537_65-5534delinsCAAAGGAGCTTT
XM_024448701.1:c.234_237delinsCAAAGGAGCTTT XP_024304469.1:p.Ser79LysfsTer?
XM_024448702.1:c.234_237delinsCAAAGGAGCTTT XP_024304470.1:p.Ser79LysfsTer?
XM_024448703.1:c.26-5537_26-5534delinsCAAAGGAGCTTT XP_024304471.1:n.26-5537_26-5534delinsCAAAGGAGCTTT
XM_024448704.1:c.-93_-90delinsCAAAGGAGCTTT XP_024304472.1:n.-93_-90delinsCAAAGGAGCTTT
XR_001747995.2:n.82-5537_82-5534delinsCAAAGGAGCTTT
XR_001747996.2:n.82-5537_82-5534delinsCAAAGGAGCTTT
XR_001747997.1:n.285_288delinsCAAAGGAGCTTT
XR_001747998.1:n.290_293delinsCAAAGGAGCTTT
XR_002957203.1:n.290_293delinsCAAAGGAGCTTT
XR_002957204.1:n.290_293delinsCAAAGGAGCTTT
XR_930914.2:n.290_293delinsCAAAGGAGCTTT
NM_001014437.3:c.234_237delinsCAAAGGAGCTTT MANE Select NP_001014437.1:p.Ser79LysfsTer?
NM_001194997.2:c.234_237delinsCAAAGGAGCTTT NP_001181926.1:p.Ser79LysfsTer?
NM_001751.6:c.26-5537_26-5534delinsCAAAGGAGCTTT NP_001742.1:n.26-5537_26-5534delinsCAAAGGAGCTTT
NM_139273.4:c.26-5537_26-5534delinsCAAAGGAGCTTT NP_644802.1:n.26-5537_26-5534delinsCAAAGGAGCTTT
NR_036542.2:n.290_293delinsCAAAGGAGCTTT
NM_001378136.1:c.65-5537_65-5534delinsCAAAGGAGCTTT NP_001365065.1:n.65-5537_65-5534delinsCAAAGGAGCTTT
NM_001378137.1:c.-52-5537_-52-5534delinsCAAAGGAGCTTT NP_001365066.1:n.-52-5537_-52-5534delinsCAAAGGAGCTTT
NM_001378138.1:c.-52-5537_-52-5534delinsCAAAGGAGCTTT NP_001365067.1:n.-52-5537_-52-5534delinsCAAAGGAGCTTT
NM_001378139.1:c.-93_-90delinsCAAAGGAGCTTT NP_001365068.1:n.-93_-90delinsCAAAGGAGCTTT
NR_165428.1:n.290_293delinsCAAAGGAGCTTT
NR_165429.1:n.82-5537_82-5534delinsCAAAGGAGCTTT
NR_165430.1:n.82-5537_82-5534delinsCAAAGGAGCTTT