Canonical Allele Identifier: CA980253679

Gene: CA5A

Linked Data

• gnomAD v3: 16-87902373-A-ATTTTTTG
• gnomAD v4: 16-87902373-A-ATTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902373_87902374insTTTTTTG , CM000678.2:g.87902373_87902374insTTTTTTG	GRCh38
NC_000016.9:g.87935979_87935980insTTTTTTG , CM000678.1:g.87935979_87935980insTTTTTTG	GRCh37
NC_000016.8:g.86493480_86493481insTTTTTTG	NCBI36
NG_033227.1:g.39133_39134insCAAAAAA
NG_033227.2:g.39156_39157insCAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.555+51_555+52insCAAAAAA	ENSP00000497934.1:n.555+51_555+52insCAAAAAA
ENST00000648177.1:c.436+51_436+52insCAAAAAA	ENSP00000497626.1:n.436+51_436+52insCAAAAAA
ENST00000649158.1:c.555+51_555+52insCAAAAAA	ENSP00000496993.1:n.555+51_555+52insCAAAAAA
ENST00000649794.3:c.555+51_555+52insCAAAAAA MANE Select	ENSP00000498065.2:n.555+51_555+52insCAAAAAA
ENST00000309893.3:c.555+51_555+52insCAAAAAA	ENSP00000309649.2:n.555+51_555+52insCAAAAAA
NM_001739.1:c.555+51_555+52insCAAAAAA	NP_001730.1:n.555+51_555+52insCAAAAAA
XM_011523309.1:c.555+51_555+52insCAAAAAA	XP_011521611.1:n.555+51_555+52insCAAAAAA
XM_011523310.1:c.555+51_555+52insCAAAAAA	XP_011521612.1:n.555+51_555+52insCAAAAAA
XR_933417.1:n.674+51_674+52insCAAAAAA
NM_001739.2:c.555+51_555+52insCAAAAAA MANE Select	NP_001730.1:n.555+51_555+52insCAAAAAA
XM_011523309.2:c.555+51_555+52insCAAAAAA	XP_011521611.1:n.555+51_555+52insCAAAAAA
XM_017023646.1:c.555+51_555+52insCAAAAAA	XP_016879135.1:n.555+51_555+52insCAAAAAA
XM_024450434.1:c.177+51_177+52insCAAAAAA	XP_024306202.1:n.177+51_177+52insCAAAAAA
XR_002957839.1:n.680+51_680+52insCAAAAAA
NM_001367225.1:c.555+51_555+52insCAAAAAA	NP_001354154.1:n.555+51_555+52insCAAAAAA
NR_159798.1:n.634+51_634+52insCAAAAAA
NR_159799.1:n.515+51_515+52insCAAAAAA