Canonical Allele Identifier: CA2240759208

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87902532_87902539delinsTGGAAAGA , CM000678.2:g.87902532_87902539delinsTGGAAAGA	GRCh38
NC_000016.9:g.87936138_87936145delinsTGGAAAGA , CM000678.1:g.87936138_87936145delinsTGGAAAGA	GRCh37
NC_000016.8:g.86493639_86493646delinsTGGAAAGA	NCBI36
NG_033227.1:g.38968_38975delinsTCTTTCCA
NG_033227.2:g.38991_38998delinsTCTTTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648022.1:c.460-19_460-12delinsTCTTTCCA	ENSP00000497934.1:n.460-19_460-12delinsTCTTTCCA
ENST00000648177.1:c.341-19_341-12delinsTCTTTCCA	ENSP00000497626.1:n.341-19_341-12delinsTCTTTCCA
ENST00000649158.1:c.460-19_460-12delinsTCTTTCCA	ENSP00000496993.1:n.460-19_460-12delinsTCTTTCCA
ENST00000649794.3:c.460-19_460-12delinsTCTTTCCA MANE Select	ENSP00000498065.2:n.460-19_460-12delinsTCTTTCCA
ENST00000309893.3:c.460-19_460-12delinsTCTTTCCA	ENSP00000309649.2:n.460-19_460-12delinsTCTTTCCA
NM_001739.1:c.460-19_460-12delinsTCTTTCCA	NP_001730.1:n.460-19_460-12delinsTCTTTCCA
XM_011523309.1:c.460-19_460-12delinsTCTTTCCA	XP_011521611.1:n.460-19_460-12delinsTCTTTCCA
XM_011523310.1:c.460-19_460-12delinsTCTTTCCA	XP_011521612.1:n.460-19_460-12delinsTCTTTCCA
XR_933417.1:n.579-19_579-12delinsTCTTTCCA
NM_001739.2:c.460-19_460-12delinsTCTTTCCA MANE Select	NP_001730.1:n.460-19_460-12delinsTCTTTCCA
XM_011523309.2:c.460-19_460-12delinsTCTTTCCA	XP_011521611.1:n.460-19_460-12delinsTCTTTCCA
XM_017023646.1:c.460-19_460-12delinsTCTTTCCA	XP_016879135.1:n.460-19_460-12delinsTCTTTCCA
XM_024450434.1:c.82-19_82-12delinsTCTTTCCA	XP_024306202.1:n.82-19_82-12delinsTCTTTCCA
XR_002957839.1:n.585-19_585-12delinsTCTTTCCA
NM_001367225.1:c.460-19_460-12delinsTCTTTCCA	NP_001354154.1:n.460-19_460-12delinsTCTTTCCA
NR_159798.1:n.539-19_539-12delinsTCTTTCCA
NR_159799.1:n.420-19_420-12delinsTCTTTCCA