Canonical Allele Identifier: CA2240759096

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902327_87902329delinsCTG , CM000678.2:g.87902327_87902329delinsCTG	GRCh38
NC_000016.9:g.87935933_87935935delinsCTG , CM000678.1:g.87935933_87935935delinsCTG	GRCh37
NC_000016.8:g.86493434_86493436delinsCTG	NCBI36
NG_033227.1:g.39178_39180delinsCAG
NG_033227.2:g.39201_39203delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000648022.1:c.555+96_555+98delinsCAG	ENSP00000497934.1:n.555+96_555+98delinsCA...
ENST00000648177.1:c.436+96_436+98delinsCAG	ENSP00000497626.1:n.436+96_436+98delinsCA...
ENST00000649158.1:c.555+96_555+98delinsCAG	ENSP00000496993.1:n.555+96_555+98delinsCA...
ENST00000649794.3:c.555+96_555+98delinsCAG MANE Select	ENSP00000498065.2:n.555+96_555+98delinsCA...
ENST00000309893.3:c.555+96_555+98delinsCAG	ENSP00000309649.2:n.555+96_555+98delinsCA...
NM_001739.1:c.555+96_555+98delinsCAG	NP_001730.1:n.555+96_555+98delinsCAG
XM_011523309.1:c.555+96_555+98delinsCAG	XP_011521611.1:n.555+96_555+98delinsCAG
XM_011523310.1:c.555+96_555+98delinsCAG	XP_011521612.1:n.555+96_555+98delinsCAG
XR_933417.1:n.674+96_674+98delinsCAG
NM_001739.2:c.555+96_555+98delinsCAG MANE Select	NP_001730.1:n.555+96_555+98delinsCAG
XM_011523309.2:c.555+96_555+98delinsCAG	XP_011521611.1:n.555+96_555+98delinsCAG
XM_017023646.1:c.555+96_555+98delinsCAG	XP_016879135.1:n.555+96_555+98delinsCAG
XM_024450434.1:c.177+96_177+98delinsCAG	XP_024306202.1:n.177+96_177+98delinsCAG
XR_002957839.1:n.680+96_680+98delinsCAG
NM_001367225.1:c.555+96_555+98delinsCAG	NP_001354154.1:n.555+96_555+98delinsCAG
NR_159798.1:n.634+96_634+98delinsCAG
NR_159799.1:n.515+96_515+98delinsCAG