Canonical Allele Identifier: CA1933418769
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034714_104034715delinsGC , CM000672.2:g.104034714_104034715delinsGC GRCh38
NC_000010.10:g.105794472_105794473delinsGC , CM000672.1:g.105794472_105794473delinsGC GRCh37
NC_000010.9:g.105784462_105784463delinsGC NCBI36
NG_007069.1:g.56166_56167delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3426_3427delinsGC ENSP00000358748.3:p.Gly1142=
ENST00000648076.2:c.3672_3673delinsGC MANE Select ENSP00000497653.1:p.Gly1224=
ENST00000353479.9:c.3672_3673delinsGC ENSP00000340937.5:p.Gly1224=
ENST00000369733.7:c.3426_3427delinsGC ENSP00000358748.3:p.Gly1142=
NM_000494.3:c.3672_3673delinsGC NP_000485.3:p.Gly1224=
NM_000494.4:c.3672_3673delinsGC MANE Select NP_000485.3:p.Gly1224=
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