Canonical Allele Identifier: CA1933374447
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064410G= , CM000672.2:g.104064410G= GRCh38
NC_000010.10:g.105824168G= , CM000672.1:g.105824168G= GRCh37
NC_000010.9:g.105814158G= NCBI36
NG_007069.1:g.26471C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.766+28C= ENSP00000358748.3:n.766+28C=
ENST00000648076.2:c.766+28C= MANE Select ENSP00000497653.1:n.766+28C=
ENST00000649118.1:n.881+28C=
ENST00000650263.1:c.718+28C= ENSP00000497850.1:n.718+28C=
ENST00000353479.9:c.766+28C= ENSP00000340937.5:n.766+28C=
ENST00000369733.7:c.766+28C= ENSP00000358748.3:n.766+28C=
ENST00000393211.3:c.766+28C= ENSP00000376905.3:n.766+28C=
ENST00000488320.1:n.111+28C=
NM_000494.3:c.766+28C= NP_000485.3:n.766+28C=
NM_000494.4:c.766+28C= MANE Select NP_000485.3:n.766+28C=