Canonical Allele Identifier: CA1933418119
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034099_104034101delinsCCT , CM000672.2:g.104034099_104034101delinsCCT GRCh38
NC_000010.10:g.105793857_105793859delinsCCT , CM000672.1:g.105793857_105793859delinsCCT GRCh37
NC_000010.9:g.105783847_105783849delinsCCT NCBI36
NG_007069.1:g.56780_56782delinsAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3754_3756delinsAGG ENSP00000358748.3:p.Arg1252=
ENST00000647647.1:c.30_32delinsAGG
ENST00000648076.2:c.4000_4002delinsAGG MANE Select ENSP00000497653.1:p.Arg1334=
ENST00000353479.9:c.4000_4002delinsAGG ENSP00000340937.5:p.Arg1334=
ENST00000369733.7:c.3754_3756delinsAGG ENSP00000358748.3:p.Arg1252=
NM_000494.3:c.4000_4002delinsAGG NP_000485.3:p.Arg1334=
NM_000494.4:c.4000_4002delinsAGG MANE Select NP_000485.3:p.Arg1334=
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