Canonical Allele Identifier: CA1933418106
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034096_104034097delinsAC , CM000672.2:g.104034096_104034097delinsAC GRCh38
NC_000010.10:g.105793854_105793855delinsAC , CM000672.1:g.105793854_105793855delinsAC GRCh37
NC_000010.9:g.105783844_105783845delinsAC NCBI36
NG_007069.1:g.56784_56785delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3758_3759delinsGT ENSP00000358748.3:p.Gly1253=
ENST00000647647.1:c.34_35delinsGT
ENST00000648076.2:c.4004_4005delinsGT MANE Select ENSP00000497653.1:p.Gly1335=
ENST00000353479.9:c.4004_4005delinsGT ENSP00000340937.5:p.Gly1335=
ENST00000369733.7:c.3758_3759delinsGT ENSP00000358748.3:p.Gly1253=
NM_000494.3:c.4004_4005delinsGT NP_000485.3:p.Gly1335=
NM_000494.4:c.4004_4005delinsGT MANE Select NP_000485.3:p.Gly1335=
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